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"A", "lastName": "Sprague" }, { "creatorType": "author", "firstName": "T", "lastName": "Stockwell" }, { "creatorType": "author", "firstName": "R", "lastName": "Turner" }, { "creatorType": "author", "firstName": "E", "lastName": "Venter" }, { "creatorType": "author", "firstName": "M", "lastName": "Wang" }, { "creatorType": "author", "firstName": "MY", "lastName": "Wen" }, { "creatorType": "author", "firstName": "D", "lastName": "Wu" }, { "creatorType": "author", "firstName": "M", "lastName": "Wu" }, { "creatorType": "author", "firstName": "A", "lastName": "Xia" }, { "creatorType": "author", "firstName": "A", "lastName": "Zandieh" }, { "creatorType": "author", "firstName": "XH", "lastName": "Zhu" } ], "abstractNote": "A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies-a whole-genome assembly and a regional chromosome assembly-were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that Largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional similar to 12,000 computationally derived genes with mouse matches or other weak supporting evidence. Although gene-dense clusters are obvious, almost half the genes are dispersed in Low G+C sequence separated by large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. Duplications of segmental blocks, ranging in size up to chromosomal Lengths, are abundant throughout the genome and reveal a complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems. DNA sequence comparisons between the consensus sequence and publicly funded genome data provided locations of 2.1 million single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes differed at a rate of 1 bp per 1250 on average, but there was marked heterogeneity in the Level of polymorphism across the genome. Less than 1% of all SNPs resulted in variation in proteins, but the task of determining which SNPs have functional consequences remains an open challenge.", "publicationTitle": "SCIENCE", "publisher": "", "place": "", "date": "FEB 16 2001", "volume": "291", "issue": "5507", "section": "", "partNumber": "", "partTitle": "", "pages": "1304-+", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "http://apps.isiknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=1&SID=4AKhOj6cBbg6FHalBD3&page=1&doc=1", "accessDate": "2009-08-06T19:46:24Z", "PMID": "", "PMCID": "", "ISSN": "0036-8075", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "ISI Web of Knowledge", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-08-06T19:46:24Z", "dateModified": "2009-08-06T19:46:24Z" } }, { "key": "B7S835QG", "version": 1, 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The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies-a whole-genome assembly and a regional chromosome assembly-were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that Largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional similar to 12,000 computationally derived genes with mouse matches or other weak supporting evidence. Although gene-dense clusters are obvious, almost half the genes are dispersed in Low G+C sequence separated by large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. Duplications of segmental blocks, ranging in size up to chromosomal Lengths, are abundant throughout the genome and reveal a complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems. DNA sequence comparisons between the consensus sequence and publicly funded genome data provided locations of 2.1 million single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes differed at a rate of 1 bp per 1250 on average, but there was marked heterogeneity in the Level of polymorphism across the genome. Less than 1% of all SNPs resulted in variation in proteins, but the task of determining which SNPs have functional consequences remains an open challenge.", "publicationTitle": "SCIENCE", "publisher": "", "place": "", "date": "FEB 16 2001", "volume": "291", "issue": "5507", "section": "", "partNumber": "", "partTitle": "", "pages": "1304-+", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "http://apps.isiknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=1&SID=4AKhOj6cBbg6FHalBD3&page=1&doc=1", "accessDate": "2009-08-06T19:41:46Z", "PMID": "", "PMCID": "", "ISSN": "0036-8075", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "ISI Web of Knowledge", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-08-06T19:41:46Z", "dateModified": "2009-08-06T19:41:46Z" } }, { "key": "8TDTJRQ9", "version": 1, 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"author", "firstName": "B", "lastName": "Ruhfel" }, { "creatorType": "author", "firstName": "R", "lastName": "Scott" }, { "creatorType": "author", "firstName": "C", "lastName": "Sitter" }, { "creatorType": "author", "firstName": "M", "lastName": "Smallwood" }, { "creatorType": "author", "firstName": "E", "lastName": "Stewart" }, { "creatorType": "author", "firstName": "R", "lastName": "Strong" }, { "creatorType": "author", "firstName": "E", "lastName": "Suh" }, { "creatorType": "author", "firstName": "R", "lastName": "Thomas" }, { "creatorType": "author", "firstName": "NN", "lastName": "Tint" }, { "creatorType": "author", "firstName": "S", "lastName": "Tse" }, { "creatorType": "author", "firstName": "C", "lastName": "Vech" }, { "creatorType": "author", "firstName": "G", "lastName": "Wang" }, { "creatorType": "author", "firstName": "J", "lastName": "Wetter" }, { "creatorType": "author", "firstName": "S", "lastName": "Williams" }, { "creatorType": "author", "firstName": "M", "lastName": "Williams" }, { "creatorType": "author", "firstName": "S", "lastName": "Windsor" }, { "creatorType": "author", "firstName": "E", "lastName": "Winn-Deen" }, { "creatorType": "author", "firstName": "K", "lastName": "Wolfe" }, { "creatorType": "author", "firstName": "J", "lastName": "Zaveri" }, { "creatorType": "author", "firstName": "K", "lastName": "Zaveri" }, { "creatorType": "author", "firstName": "JF", "lastName": "Abril" }, { "creatorType": "author", "firstName": "R", "lastName": "Guigo" }, { "creatorType": "author", "firstName": "MJ", "lastName": "Campbell" }, { "creatorType": "author", "firstName": "KV", "lastName": "Sjolander" }, { "creatorType": "author", "firstName": "B", "lastName": "Karlak" }, { "creatorType": "author", "firstName": "A", "lastName": "Kejariwal" }, { "creatorType": "author", "firstName": "HY", "lastName": "Mi" }, { "creatorType": "author", "firstName": "B", "lastName": "Lazareva" }, { "creatorType": "author", "firstName": "T", "lastName": "Hatton" }, { "creatorType": "author", "firstName": "A", "lastName": "Narechania" }, { "creatorType": "author", "firstName": "K", "lastName": "Diemer" }, { "creatorType": "author", "firstName": "A", "lastName": "Muruganujan" }, { "creatorType": "author", "firstName": "N", "lastName": "Guo" }, { "creatorType": "author", "firstName": "S", "lastName": "Sato" }, { "creatorType": "author", "firstName": "V", "lastName": "Bafna" }, { "creatorType": "author", "firstName": "S", "lastName": "Istrail" }, { "creatorType": "author", "firstName": "R", "lastName": "Lippert" }, { "creatorType": "author", "firstName": "R", "lastName": "Schwartz" }, { "creatorType": "author", "firstName": "B", "lastName": "Walenz" }, { "creatorType": "author", "firstName": "S", "lastName": "Yooseph" }, { "creatorType": "author", "firstName": "D", "lastName": "Allen" }, { "creatorType": "author", "firstName": "A", "lastName": "Basu" }, { "creatorType": "author", "firstName": "J", "lastName": "Baxendale" }, { "creatorType": "author", "firstName": "L", "lastName": "Blick" }, { "creatorType": "author", "firstName": "M", "lastName": "Caminha" }, { "creatorType": "author", "firstName": "J", "lastName": "Carnes-Stine" }, { "creatorType": "author", "firstName": "P", "lastName": "Caulk" }, { "creatorType": "author", "firstName": "YH", "lastName": "Chiang" }, { "creatorType": "author", "firstName": "M", "lastName": "Coyne" }, { "creatorType": "author", "firstName": "C", "lastName": "Dahlke" }, { "creatorType": "author", "firstName": "AD", "lastName": "Mays" }, { "creatorType": "author", "firstName": "M", "lastName": "Dombroski" }, { "creatorType": "author", "firstName": "M", "lastName": "Donnelly" }, { "creatorType": "author", "firstName": "D", "lastName": "Ely" }, { "creatorType": "author", "firstName": "S", "lastName": "Esparham" }, { "creatorType": "author", "firstName": "C", "lastName": "Fosler" }, { "creatorType": "author", "firstName": "H", "lastName": "Gire" }, { "creatorType": "author", "firstName": "S", "lastName": "Glanowski" }, { "creatorType": "author", "firstName": "K", "lastName": "Glasser" }, { "creatorType": "author", "firstName": "A", "lastName": "Glodek" }, { "creatorType": "author", "firstName": "M", "lastName": "Gorokhov" }, { "creatorType": "author", "firstName": "K", "lastName": "Graham" }, { "creatorType": "author", "firstName": "B", "lastName": "Gropman" }, { "creatorType": "author", "firstName": "M", "lastName": "Harris" }, { "creatorType": "author", "firstName": "J", "lastName": "Heil" }, { "creatorType": "author", "firstName": "S", "lastName": "Henderson" }, { "creatorType": "author", "firstName": "J", "lastName": "Hoover" }, { "creatorType": "author", "firstName": "D", "lastName": "Jennings" }, { "creatorType": "author", "firstName": "C", "lastName": "Jordan" }, { "creatorType": "author", "firstName": "J", "lastName": "Jordan" }, { "creatorType": "author", "firstName": "J", "lastName": "Kasha" }, { "creatorType": "author", "firstName": "L", "lastName": "Kagan" }, { "creatorType": "author", "firstName": "C", "lastName": "Kraft" }, { "creatorType": "author", "firstName": "A", "lastName": "Levitsky" }, { "creatorType": "author", "firstName": "M", "lastName": "Lewis" }, { "creatorType": "author", "firstName": "XJ", "lastName": "Liu" }, { "creatorType": "author", "firstName": "J", "lastName": "Lopez" }, { "creatorType": "author", "firstName": "D", "lastName": "Ma" }, { "creatorType": "author", "firstName": "W", "lastName": "Majoros" }, { "creatorType": "author", "firstName": "J", "lastName": "McDaniel" }, { "creatorType": "author", "firstName": "S", "lastName": "Murphy" }, { "creatorType": "author", "firstName": "M", "lastName": "Newman" }, { "creatorType": "author", "firstName": "T", "lastName": "Nguyen" }, { "creatorType": "author", "firstName": "N", "lastName": "Nguyen" }, { "creatorType": "author", "firstName": "M", "lastName": "Nodell" }, { "creatorType": "author", "firstName": "S", "lastName": "Pan" }, { "creatorType": "author", "firstName": "J", "lastName": "Peck" }, { "creatorType": "author", "firstName": "M", "lastName": "Peterson" }, { "creatorType": "author", "firstName": "W", "lastName": "Rowe" }, { "creatorType": "author", "firstName": "R", "lastName": "Sanders" }, { "creatorType": "author", "firstName": "J", "lastName": "Scott" }, { "creatorType": "author", "firstName": "M", "lastName": "Simpson" }, { "creatorType": "author", "firstName": "T", "lastName": "Smith" }, { "creatorType": "author", "firstName": "A", "lastName": "Sprague" }, { "creatorType": "author", "firstName": "T", "lastName": "Stockwell" }, { "creatorType": "author", "firstName": "R", "lastName": "Turner" }, { "creatorType": "author", "firstName": "E", "lastName": "Venter" }, { "creatorType": "author", "firstName": "M", "lastName": "Wang" }, { "creatorType": "author", "firstName": "MY", "lastName": "Wen" }, { "creatorType": "author", "firstName": "D", "lastName": "Wu" }, { "creatorType": "author", "firstName": "M", "lastName": "Wu" }, { "creatorType": "author", "firstName": "A", "lastName": "Xia" }, { "creatorType": "author", "firstName": "A", "lastName": "Zandieh" }, { "creatorType": "author", "firstName": "XH", "lastName": "Zhu" } ], "abstractNote": "A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies-a whole-genome assembly and a regional chromosome assembly-were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that Largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional similar to 12,000 computationally derived genes with mouse matches or other weak supporting evidence. Although gene-dense clusters are obvious, almost half the genes are dispersed in Low G+C sequence separated by large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. Duplications of segmental blocks, ranging in size up to chromosomal Lengths, are abundant throughout the genome and reveal a complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems. DNA sequence comparisons between the consensus sequence and publicly funded genome data provided locations of 2.1 million single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes differed at a rate of 1 bp per 1250 on average, but there was marked heterogeneity in the Level of polymorphism across the genome. Less than 1% of all SNPs resulted in variation in proteins, but the task of determining which SNPs have functional consequences remains an open challenge.", "publicationTitle": "SCIENCE", "publisher": "", "place": "", "date": "FEB 16 2001", "volume": "291", "issue": "5507", "section": "", "partNumber": "", "partTitle": "", "pages": "1304-+", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "http://apps.isiknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=1&SID=4AKhOj6cBbg6FHalBD3&page=1&doc=1", "accessDate": "2009-08-06T19:37:09Z", "PMID": "", "PMCID": "", "ISSN": "0036-8075", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "ISI Web of Knowledge", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-08-06T19:37:09Z", "dateModified": "2009-08-06T19:37:09Z" } }, { "key": "7QKCEHZK", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/7QKCEHZK", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/7QKCEHZK", "type": "text/html" } }, "meta": { "createdByUser": { "id": 36504, "username": "dwaggott", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/dwaggott", "type": "text/html" } } }, "creatorSummary": "Service and O'Brien", "parsedDate": "2007", "numChildren": 0 }, "data": { "key": "7QKCEHZK", "version": 1, "itemType": "journalArticle", "title": "Influence of Glycemic Variables on Hemoglobin A1c", "creators": [ { "creatorType": "author", "firstName": "F. J", "lastName": "Service" }, { "creatorType": "author", "firstName": "P. C", "lastName": "O'Brien" } ], "abstractNote": "", "publicationTitle": "Endocrine Practice", "publisher": "", "place": "", "date": "2007", "volume": "13", "issue": "4", "section": "", "partNumber": "", "partTitle": "", "pages": "350–354", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "", "citationKey": "", "url": "", "accessDate": "", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Google Scholar", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-08-05T18:58:10Z", "dateModified": "2009-08-05T18:58:10Z" } }, { "key": "554DESSV", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/554DESSV", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/554DESSV", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "lastModifiedByUser": { "id": 38161, "username": "James Edison", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/james_edison", "type": "text/html" } } }, "creatorSummary": "Aulchenko et al.", "parsedDate": "2007", "numChildren": 0 }, "data": { "key": "554DESSV", "version": 1, "itemType": "journalArticle", "title": "GenABEL: an R library for genome-wide association analysis", "creators": [ { "creatorType": "author", "firstName": "Yurii S.", "lastName": "Aulchenko" }, { "creatorType": "author", "firstName": "Stephan", "lastName": "Ripke" }, { "creatorType": "author", "firstName": "Aaron", "lastName": "Isaacs" }, { "creatorType": "author", "firstName": "Cornelia M.", "lastName": "van Duijn" } ], "abstractNote": "Here we describe an R library for genome-wide association (GWA) analysis. It implements effective storage and handling of GWA data, fast procedures for genetic data quality control, testing of association of single nucleotide polymorphisms with binary or quantitative traits, visualization of results and also provides easy interfaces to standard statistical and graphical procedures implemented in base R and special R libraries for genetic analysis. We evaluated GenABEL using one simulated and two real data sets. We conclude that GenABEL enables the analysis of GWA data on desktop computers. Availability: http://cran.r-project.org Contact: i.aoultchenko@erasmusmc.nl", "publicationTitle": "Bioinformatics", "publisher": "", "place": "", "date": "Mai 15, 2007", "volume": "23", "issue": "10", "section": "", "partNumber": "", "partTitle": "", "pages": "1294-1296", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1093/bioinformatics/btm108", "citationKey": "", "url": "http://bioinformatics.oxfordjournals.org/cgi/content/abstract/23/10/1294", "accessDate": "2009-07-11T10:34:41Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "GenABEL", "language": "", "libraryCatalog": "HighWire", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-07-11T10:34:50Z", "dateModified": "2009-07-11T10:34:50Z" } }, { "key": "S4WX3MIS", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/S4WX3MIS", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/S4WX3MIS", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "lastModifiedByUser": { "id": 38161, "username": "James Edison", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/james_edison", "type": "text/html" } } }, "creatorSummary": "Akey et al.", "parsedDate": "2002", "numChildren": 0 }, "data": { "key": "S4WX3MIS", "version": 1, "itemType": "journalArticle", "title": "Interrogating a High-Density SNP Map for Signatures of Natural Selection", "creators": [ { "creatorType": "author", "firstName": "Joshua M.", "lastName": "Akey" }, { "creatorType": "author", "firstName": "Ge", "lastName": "Zhang" }, { "creatorType": "author", "firstName": "Kun", "lastName": "Zhang" }, { "creatorType": "author", "firstName": "Li", "lastName": "Jin" }, { "creatorType": "author", "firstName": "Mark D.", "lastName": "Shriver" } ], "abstractNote": "Identifying genomic regions that have been targets of natural selection remains one of the most important and challenging areas of research in genetics. To this end, we report an analysis of 26,530 single nucleotide polymorphisms (SNPs) with allele frequencies that were determined in three populations. Specifically, we calculated a measure of genetic differentiation, F, for each locus and examined its distribution at the level of the genome, the chromosome, and individual genes. Through a variety of analyses, we have found statistically significant evidence supporting the hypothesis that selection has influenced extant patterns of human genetic variation. Importantly, by contrasting the F of individual SNPs to the empirical genome-wide distribution of F, our results are not confounded by tenuous assumptions of population demographic history. Furthermore, we have identified 174 candidate genes with distribution of genetic variation that indicates that they have been targets of selection. Our work provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.\n[Supplemental material is available online at.]", "publicationTitle": "Genome Research", "publisher": "", "place": "", "date": "Dezember 01, 2002", "volume": "12", "issue": "12", "section": "", "partNumber": "", "partTitle": "", "pages": "1805-1814", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1101/gr.631202", "citationKey": "", "url": "http://genome.cshlp.org/content/12/12/1805.abstract", "accessDate": "2009-06-10T06:54:58Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Highwire 2.0", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-07-10T08:21:09Z", "dateModified": "2009-07-10T08:21:09Z" } }, { "key": "5HKVAXUS", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/5HKVAXUS", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/5HKVAXUS", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "EXCOFFIER and HECKEL", "parsedDate": "2006-10", "numChildren": 0 }, "data": { "key": "5HKVAXUS", "version": 1, "itemType": "journalArticle", "title": "Computer programs for population genetics data analysis: a survival guide", "creators": [ { "creatorType": "author", "firstName": "LAURENT", "lastName": "EXCOFFIER" }, { "creatorType": "author", "firstName": "GERALD", "lastName": "HECKEL" } ], "abstractNote": "The analysis of genetic diversity within species is vital for understanding evolutionary processes at the population level and at the genomic level. A large quantity of data can now be produced at an unprecedented rate, requiring the use of dedicated computer programs to extract all embedded information. Several statistical packages have been recently developed, which offer a panel of standard and more sophisticated analyses. We describe here the functionalities, special features and assumptions of more than 20 such programs, indicate how they can interoperate, and discuss new directions that could lead to improved software and analyses.", "publicationTitle": "Nature Reviews. Genetics", "publisher": "", "place": "", "date": "Oct 2006", "volume": "7", "issue": "10", "section": "", "partNumber": "", "partTitle": "", "pages": "745-758", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Nat. Rev. Genet", "DOI": "10.1038/nrg1904", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/16924258", "accessDate": "2009-07-10T07:33:06Z", "PMID": "", "PMCID": "", "ISSN": "1471-0056", "archive": "", "archiveLocation": "", "shortTitle": "Computer programs for population genetics data analysis", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 16924258", "tags": [ { "tag": "Computers", "type": 1 }, { "tag": "Genetics, Population", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Software", "type": 1 }, { "tag": "Statistics as Topic", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-07-10T08:20:55Z", "dateModified": "2009-07-10T08:20:55Z" } }, { "key": "H9EMF3HT", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/H9EMF3HT", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/H9EMF3HT", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Meadows et al.", "parsedDate": "2008", "numChildren": 0 }, "data": { "key": "H9EMF3HT", "version": 1, "itemType": "journalArticle", "title": "Linkage disequilibrium compared between five populations of domestic sheep", "creators": [ { "creatorType": "author", "firstName": "Jennifer RS", "lastName": "Meadows" }, { "creatorType": "author", "firstName": "Eva KF", "lastName": "Chan" }, { "creatorType": "author", "firstName": "James W", "lastName": "Kijas" } ], "abstractNote": "", "publicationTitle": "BMC Genetics", "publisher": "", "place": "", "date": "2008", "volume": "9", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "61", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "BMC Genet.", "DOI": "10.1186/1471-2156-9-61", "citationKey": "", "url": "http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2572059", "accessDate": "2009-07-10T07:37:38Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMC2572059", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-07-10T08:20:40Z", "dateModified": "2009-07-10T08:20:40Z" } }, { "key": "78W44ZCQ", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/78W44ZCQ", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/78W44ZCQ", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "78W44ZCQ", "version": 1, "itemType": "webpage", "title": "Estimation of genetic trend in racing performance ...[Nature. 1988] - PubMed Result", "creators": [], "abstractNote": "", "websiteTitle": "", "websiteType": "", "date": "", "publisher": "", "place": "", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=Search&doptcmdl=Citation&defaultField=Title%20Word&term=Gaffney%5Bauthor%5D%20AND%20Estimation%20of%20genetic%20trend%20in%20racing%20performance%20of%20thoroughbred%20horses.", "accessDate": "2009-06-10T06:50:37Z", "shortTitle": "", "language": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-10T06:51:01Z", "dateModified": "2009-06-10T06:51:01Z" } }, { "key": "5RFBRWCQ", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/5RFBRWCQ", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/5RFBRWCQ", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27908, "username": "Wiebke.Schroeder", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/wiebke.schroeder", "type": "text/html" } } }, "creatorSummary": "Gu et al.", "parsedDate": "2009-06-02", "numChildren": 0 }, "data": { "key": "5RFBRWCQ", "version": 1, "itemType": "journalArticle", "title": "A Genome Scan for Positive Selection in Thoroughbred Horses", "creators": [ { "creatorType": "author", "firstName": "Jingjing", "lastName": "Gu" }, { "creatorType": "author", "firstName": "Nick", "lastName": "Orr" }, { "creatorType": "author", "firstName": "Stephen D.", "lastName": "Park" }, { "creatorType": "author", "firstName": "Lisa M.", "lastName": "Katz" }, { "creatorType": "author", "firstName": "Galina", "lastName": "Sulimova" }, { "creatorType": "author", "firstName": "David E.", "lastName": "MacHugh" }, { "creatorType": "author", "firstName": "Emmeline W.", "lastName": "Hill" } ], "abstractNote": "Thoroughbred horses have been selected for exceptional racing performance resulting in system-wide structural and functional adaptations contributing to elite athletic phenotypes. Because selection has been recent and intense in a closed population that stems from a small number of founder animals Thoroughbreds represent a unique population within which to identify genomic contributions to exercise-related traits. Employing a population genetics-based hitchhiking mapping approach we performed a genome scan using 394 autosomal and X chromosome microsatellite loci and identified positively selected loci in the extreme tail-ends of the empirical distributions for (1) deviations from expected heterozygosity (Ewens-Watterson test) in Thoroughbred (n = 112) and (2) global differentiation among four geographically diverse horse populations (FST). We found positively selected genomic regions in Thoroughbred enriched for phosphoinositide-mediated signalling (3.2-fold enrichment; P<0.01), insulin receptor signalling (5.0-fold enrichment; P<0.01) and lipid transport (2.2-fold enrichment; P<0.05) genes. We found a significant overrepresentation of sarcoglycan complex (11.1-fold enrichment; P<0.05) and focal adhesion pathway (1.9-fold enrichment; P<0.01) genes highlighting the role for muscle strength and integrity in the Thoroughbred athletic phenotype. We report for the first time candidate athletic-performance genes within regions targeted by selection in Thoroughbred horses that are principally responsible for fatty acid oxidation, increased insulin sensitivity and muscle strength: ACSS1 (acyl-CoA synthetase short-chain family member 1), ACTA1 (actin, alpha 1, skeletal muscle), ACTN2 (actinin, alpha 2), ADHFE1 (alcohol dehydrogenase, iron containing, 1), MTFR1 (mitochondrial fission regulator 1), PDK4 (pyruvate dehydrogenase kinase, isozyme 4) and TNC (tenascin C). Understanding the genetic basis for exercise adaptation will be crucial for the identification of genes within the complex molecular networks underlying obesity and its consequential pathologies, such as type 2 diabetes. Therefore, we propose Thoroughbred as a novel in vivo large animal model for understanding molecular protection against metabolic disease.", "publicationTitle": "PLoS ONE", "publisher": "", "place": "", "date": "Juni 02, 2009", "volume": "4", "issue": "6", "section": "", "partNumber": "", "partTitle": "", "pages": "e5767", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "PLoS ONE", "DOI": "10.1371/journal.pone.0005767", "citationKey": "", "url": "http://dx.doi.org/10.1371/journal.pone.0005767", "accessDate": "2009-06-08T07:30:46Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PLoS ONE", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-10T06:34:19Z", "dateModified": "2009-06-10T06:34:19Z" } }, { "key": "QKQVHCAM", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/QKQVHCAM", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/QKQVHCAM", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27908, "username": "Wiebke.Schroeder", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/wiebke.schroeder", "type": "text/html" } } }, "creatorSummary": "Schlotterer", "parsedDate": "2003-01", "numChildren": 0 }, "data": { "key": "QKQVHCAM", "version": 1, "itemType": "journalArticle", "title": "Hitchhiking mapping - functional genomics from the population genetics perspective", "creators": [ { "creatorType": "author", "firstName": "Christian", "lastName": "Schlotterer" } ], "abstractNote": "Several statistical tests based on population genetic theory are used to identify genes that have recently acquired a beneficial mutation. Here, I describe the extension of these tests to a multilocus approach for a genome-wide survey for genes that have been under recent positive selection. As this strategy could potentially identify genes with weak phenotypic effects, it will be very useful in population genetic approaches aimed at understanding adaptation processes in natural populations. Furthermore, this [`]hitchhiking mapping' could also help in the functional characterization of genomes.", "publicationTitle": "Trends in Genetics", "publisher": "", "place": "", "date": "Januar 2003", "volume": "19", "issue": "1", "section": "", "partNumber": "", "partTitle": "", "pages": "32-38", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1016/S0168-9525(02)00012-4", "citationKey": "", "url": "http://www.sciencedirect.com/science/article/B6TCY-47CX8N4-1/2/2d53bf4a626e8db67fdca03b431cc2a3", "accessDate": "2009-06-09T14:19:45Z", "PMID": "", "PMCID": "", "ISSN": "0168-9525", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "ScienceDirect", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-10T06:34:09Z", "dateModified": "2009-06-10T06:34:09Z" } }, { "key": "TAB88ZNH", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/TAB88ZNH", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/TAB88ZNH", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "De et al.", "parsedDate": "2008", "numChildren": 0 }, "data": { "key": "TAB88ZNH", "version": 1, "itemType": "journalArticle", "title": "Patterns of evolutionary constraints on genes in humans", "creators": [ { "creatorType": "author", "firstName": "Subhajyoti", "lastName": "De" }, { "creatorType": "author", "firstName": "Núria", "lastName": "López-Bigas" }, { "creatorType": "author", "firstName": "Sarah A", "lastName": "Teichmann" } ], "abstractNote": "", "publicationTitle": "BMC Evolutionary Biology", "publisher": "", "place": "", "date": "2008", "volume": "8", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "275", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "BMC Evol Biol.", "DOI": "10.1186/1471-2148-8-275", "citationKey": "", "url": "http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2587479", "accessDate": "2009-06-08T03:07:30Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMC2587479", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-08T03:08:22Z", "dateModified": "2009-06-08T03:08:22Z" } }, { "key": "ZDS3PC2Q", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/ZDS3PC2Q", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/ZDS3PC2Q", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Malmström et al.", "parsedDate": "2008", "numChildren": 0 }, "data": { "key": "ZDS3PC2Q", "version": 1, "itemType": "journalArticle", "title": "Barking up the wrong tree: Modern northern European dogs fail to explain their origin", "creators": [ { "creatorType": "author", "firstName": "Helena", "lastName": "Malmström" }, { "creatorType": "author", "firstName": "Carles", "lastName": "Vilà" }, { "creatorType": "author", "firstName": "M Thomas P", "lastName": "Gilbert" }, { "creatorType": "author", "firstName": "Jan", "lastName": "Storå" }, { "creatorType": "author", "firstName": "Eske", "lastName": "Willerslev" }, { "creatorType": "author", "firstName": "Gunilla", "lastName": "Holmlund" }, { "creatorType": "author", "firstName": "Anders", "lastName": "Götherström" } ], "abstractNote": "", "publicationTitle": "BMC Evolutionary Biology", "publisher": "", "place": "", "date": "2008", "volume": "8", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1186/1471-2148-8-71", "citationKey": "", "url": "http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2288593", "accessDate": "2008-05-22T08:40:46Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "Barking up the wrong tree", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMC2288593", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:50:26Z", "dateModified": "2009-06-05T14:50:26Z" } }, { "key": "6XZF2XMV", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/6XZF2XMV", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/6XZF2XMV", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Chase et al.", "parsedDate": "2002-07-23", "numChildren": 0 }, "data": { "key": "6XZF2XMV", "version": 1, "itemType": "journalArticle", "title": "Genetic basis for systems of skeletal quantitative traits: Principal component analysis of the canid skeleton", "creators": [ { "creatorType": "author", "firstName": "Kevin", "lastName": "Chase" }, { "creatorType": "author", "firstName": "David R.", "lastName": "Carrier" }, { "creatorType": "author", "firstName": "Frederick R.", "lastName": "Adler" }, { "creatorType": "author", "firstName": "Tyler", "lastName": "Jarvik" }, { "creatorType": "author", "firstName": "Elaine A.", "lastName": "Ostrander" }, { "creatorType": "author", "firstName": "Travis D.", "lastName": "Lorentzen" }, { "creatorType": "author", "firstName": "Karl G.", "lastName": "Lark" } ], "abstractNote": "Evolution of mammalian skeletal structure can be rapid and the changes profound, as illustrated by the morphological diversity of the domestic dog. Here we use principal component analysis of skeletal variation in a population of Portuguese Water Dogs to reveal systems of traits defining skeletal structures. This analysis classifies phenotypic variation into independent components that can be used to dissect genetic networks regulating complex biological systems. We show that unlinked quantitative trait loci associated with these principal components individually promote both correlations within structures (e.g., within the skull or among the limb bones) and inverse correlations between structures (e.g., skull vs. limb bones). These quantitative trait loci are consistent with regulatory genes that inhibit growth of some bones while enhancing growth of others. These systems of traits could explain the skeletal differences between divergent breeds such as Greyhounds and Pit Bulls, and even some of the skeletal transformations that characterize the evolution of hominids.", "publicationTitle": "Proceedings of the National Academy of Sciences", "publisher": "", "place": "", "date": "Juli 23, 2002", "volume": "99", "issue": "15", "section": "", "partNumber": "", "partTitle": "", "pages": "9930-9935", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1073/pnas.152333099", "citationKey": "", "url": "http://www.pnas.org/cgi/content/abstract/99/15/9930", "accessDate": "2008-05-31T09:09:43Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "Genetic basis for systems of skeletal quantitative traits", "language": "", "libraryCatalog": "HighWire", "callNumber": "", "rights": "", "extra": "", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "SN5TS4GT", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/SN5TS4GT", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/SN5TS4GT", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Cook et al.", "parsedDate": "2008-09", "numChildren": 0 }, "data": { "key": "SN5TS4GT", "version": 1, "itemType": "journalArticle", "title": "Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses", "creators": [ { "creatorType": "author", "firstName": "Deborah", "lastName": "Cook" }, { "creatorType": "author", "firstName": "Samantha", "lastName": "Brooks" }, { "creatorType": "author", "firstName": "Rebecca", "lastName": "Bellone" }, { "creatorType": "author", "firstName": "Ernest", "lastName": "Bailey" } ], "abstractNote": "Champagne coat color in horses is controlled by a single, autosomal-dominant gene (", "publicationTitle": "PLoS Genetics", "publisher": "", "place": "", "date": "2008 September", "volume": "4", "issue": "9", "section": "", "partNumber": "", "partTitle": "", "pages": "e1000195", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "PLoS Genet.", "DOI": "10.1371/journal.pgen.1000195", "citationKey": "", "url": "http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2535566", "accessDate": "2008-11-16T16:47:17Z", "PMID": "", "PMCID": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMC2535566", "tags": [], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "62IJWSJK", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/62IJWSJK", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/62IJWSJK", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Bellone et al.", "parsedDate": "2008-08", "numChildren": 0 }, "data": { "key": "62IJWSJK", "version": 1, "itemType": "journalArticle", "title": "Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)", "creators": [ { "creatorType": "author", "firstName": "Rebecca R", "lastName": "Bellone" }, { "creatorType": "author", "firstName": "Samantha A", "lastName": "Brooks" }, { "creatorType": "author", "firstName": "Lynne", "lastName": "Sandmeyer" }, { "creatorType": "author", "firstName": "Barbara A", "lastName": "Murphy" }, { "creatorType": "author", "firstName": "George", "lastName": "Forsyth" }, { "creatorType": "author", "firstName": "Sheila", "lastName": "Archer" }, { "creatorType": "author", "firstName": "Ernest", "lastName": "Bailey" }, { "creatorType": "author", "firstName": "Bruce", "lastName": "Grahn" } ], "abstractNote": "The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) expression in the retina of homozygous appaloosa horses was 0.05% the level found in non-appaloosa horses (R = 0.0005). This constitutes a >1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = -1870.637, P = 0.001) of CSNB-affected (LP/LP) horses. TRPM1 was also downregulated in LP/LP pigmented skin (R = 0.005, FC = -193.963, P = 0.001) and in LP/LP unpigmented skin (R = 0.003, FC = -288.686, P = 0.001) and was downregulated to a lesser extent in LP/lp unpigmented skin (R = 0.027, FC = -36.583, P = 0.001). TRP proteins are thought to have a role in controlling intracellular Ca(2+) concentration. Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses.", "publicationTitle": "Genetics", "publisher": "", "place": "", "date": "Aug 2008", "volume": "179", "issue": "4", "section": "", "partNumber": "", "partTitle": "", "pages": "1861-70", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Genetics", "DOI": "PMC2516064", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/18660533", "accessDate": "2008-11-16T16:53:29Z", "PMID": "", "PMCID": "", "ISSN": "0016-6731", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 18660533", "tags": [ { "tag": "Animals", "type": 1 }, { "tag": "Eye Abnormalities", "type": 1 }, { "tag": "Gene Expression", "type": 1 }, { "tag": "Genes, Dominant", "type": 1 }, { "tag": "Genotype", "type": 1 }, { "tag": "Horse Diseases", "type": 1 }, { "tag": "Horses", "type": 1 }, { "tag": "Night Blindness", "type": 1 }, { "tag": "Pigmentation", "type": 1 }, { "tag": "TRPM Cation Channels", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "WW3NPTFH", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/WW3NPTFH", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/WW3NPTFH", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Wittwer et al.", "numChildren": 0 }, "data": { "key": "WW3NPTFH", "version": 1, "itemType": "journalArticle", "title": "Associations between candidate gene markers at a quantitative trait locus on equine chromosome 4 responsible for osteochondrosis dissecans in fetlock joints of South German Coldblood horses", "creators": [ { "creatorType": "author", "firstName": "Catherine", "lastName": "Wittwer" }, { "creatorType": "author", "firstName": "Claudia", "lastName": "Dierks" }, { "creatorType": "author", "firstName": "Henning", "lastName": "Hamann" }, { "creatorType": "author", "firstName": "Ottmar", "lastName": "Distl" } ], "abstractNote": "A previously accomplished whole-genome scan for osteochondrosis (OC) and OC dissecans (OCD) in South German Coldblood horses using 250 microsatellite markers identified putative quantitative trait loci (QTL). A chromosome-wide significant QTL for fetlock OCD was found on Equus caballus chromosome (ECA) 4q at a relative position of 70.0-73.3 cM. The aim of this study was to analyze associations of single nucleotide polymorphisms (SNPs) in candidate genes for OC in this region. The association analysis included 32 affected and 64 unaffected horses. Three SNPs located in intron 8, intron 9, and 3'-untranslated region (UTR) of the acyloxyacyl hydrolase (AOAH) gene on ECA4q were significantly associated with OCD in fetlock joints. In order to control for systematic environmental and quantitative genetic effects, we employed a linear animal model. The association of the SNP (AJ543065:g.703A>G) in the 3'-UTR of exon 21 was confirmed in the animal model analysis and a significant additive genetic effect for fetlock OCD of 0.42 (P = 0.002) and a dominance effect of -0.32 (P = 0.03) was estimated. This is the first report on a marker in population-wide linkage disequilibrium with equine OCD in fetlock joints.", "publicationTitle": "The Journal of Heredity", "publisher": "", "place": "", "date": "", "volume": "99", "issue": "2", "section": "", "partNumber": "", "partTitle": "", "pages": "125-9", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "J Hered", "DOI": "esm106", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/18227080", "accessDate": "2008-11-24T16:44:00Z", "PMID": "", "PMCID": "", "ISSN": "1465-7333", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 18227080", "tags": [ { "tag": "Animals", "type": 1 }, { "tag": "Chromosome Mapping", "type": 1 }, { "tag": "Genetic Markers", "type": 1 }, { "tag": "Horses", "type": 1 }, { "tag": "Joints", "type": 1 }, { "tag": "Likelihood Functions", "type": 1 }, { "tag": "Linkage Disequilibrium", "type": 1 }, { "tag": "Microsatellite Repeats", "type": 1 }, { "tag": "Osteochondritis", "type": 1 }, { "tag": "Polymorphism, Single Nucleotide", "type": 1 }, { "tag": "Quantitative Trait Loci", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "VUZBVZPA", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/VUZBVZPA", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/VUZBVZPA", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Drögemüller et al.", "parsedDate": "2007", "numChildren": 0 }, "data": { "key": "VUZBVZPA", "version": 1, "itemType": "journalArticle", "title": "Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)", "creators": [ { "creatorType": "author", "firstName": "Cord", "lastName": "Drögemüller" }, { "creatorType": "author", "firstName": "Tosso", "lastName": "Leeb" }, { "creatorType": "author", "firstName": "Barbara", "lastName": "Harlizius" }, { "creatorType": "author", "firstName": "Imke", "lastName": "Tammen" }, { "creatorType": "author", "firstName": "Ottmar", "lastName": "Distl" }, { "creatorType": "author", "firstName": "Martin", "lastName": "Höltershinken" }, { "creatorType": "author", "firstName": "Arcangelo", "lastName": "Gentile" }, { "creatorType": "author", "firstName": "Amandine", "lastName": "Duchesne" }, { "creatorType": "author", "firstName": "André", "lastName": "Eggen" } ], "abstractNote": "BACKGROUND: Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds. RESULTS: We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families. CONCLUSION: We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of syndactyly.", "publicationTitle": "BMC Genetics", "publisher": "", "place": "", "date": "2007", "volume": "8", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "5", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "BMC Genet", "DOI": "10.1186/1471-2156-8-5", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/17319939", "accessDate": "2009-02-16T01:43:13Z", "PMID": "", "PMCID": "", "ISSN": "1471-2156", "archive": "", "archiveLocation": "", "shortTitle": "Congenital syndactyly in cattle", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 17319939", "tags": [ { "tag": "Amino Acid Sequence", "type": 1 }, { "tag": "Animals", "type": 1 }, { "tag": "Breeding", "type": 1 }, { "tag": "Cattle", "type": 1 }, { "tag": "Cattle Diseases", "type": 1 }, { "tag": "Codon", "type": 1 }, { "tag": "Crosses, Genetic", "type": 1 }, { "tag": "DNA Mutational Analysis", "type": 1 }, { "tag": "Female", "type": 1 }, { "tag": "Male", "type": 1 }, { "tag": "Molecular Sequence Data", "type": 1 }, { "tag": "Mutation, Missense", "type": 1 }, { "tag": "Pedigree", "type": 1 }, { "tag": "Protein Structure, Tertiary", "type": 1 }, { "tag": "Receptors, LDL", "type": 1 }, { "tag": "Sequence Homology, Amino Acid", "type": 1 }, { "tag": "Species Specificity", "type": 1 }, { "tag": "Syndactyly", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "9VXM5RXD", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/9VXM5RXD", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/9VXM5RXD", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Rodríguez de Córdoba et al.", "parsedDate": "1994-06", "numChildren": 0 }, "data": { "key": "9VXM5RXD", "version": 1, "itemType": "journalArticle", "title": "The gene coding for the beta-chain of C4b-binding protein (C4BPB) has become a pseudogene in the mouse", "creators": [ { "creatorType": "author", "firstName": "S", "lastName": "Rodríguez de Córdoba" }, { "creatorType": "author", "firstName": "M", "lastName": "Pérez-Blas" }, { "creatorType": "author", "firstName": "R", "lastName": "Ramos-Ruiz" }, { "creatorType": "author", "firstName": "P", "lastName": "Sánchez-Corral" }, { "creatorType": "author", "firstName": "F", "lastName": "Pardo-Manuel de Villena" }, { "creatorType": "author", "firstName": "J", "lastName": "Rey-Campos" } ], "abstractNote": "C4BP beta is one of the two polypeptides that in humans compose the plasma glycoprotein C4b-binding protein (C4BP). C4BP beta binds the anticoagulant vitamin K-dependent protein S. Two, nonmutually exclusive, roles have been proposed for the C4BP-protein S interaction. It has been suggested to play a role in the control of the protein C anticoagulatory pathway. In addition, it may serve an important role in localizing C4BP to the surface of injured or activated cells. While the physiological significance of C4BP-protein S interaction is unclear, it has clinical relevance because elevated plasma levels of C4BP are associated with increased risk for thromboembolic disorders in humans, due to an inactivation of the protein C anticoagulatory pathway. Using a human C4BP beta cDNA probe, we have isolated and characterized a genomic DNA fragment that includes the murine C4BPB gene. Murine C4BPB is a single-copy gene that maps close to the C4BPA gene in chromosome 1. It contains two exons homologous to the exons coding for the SCR-1 and SCR-2 repeats of the human C4BP beta polypeptide chain. Sequence analysis of the C4BPB exons in the Mus musculus inbred strains CBA, Balb/c, and C57BL/6, in pen-bred Swiss mice, and in Mus spretus demonstrated the presence of two in-phase stop codons that are incompatible with the expression of a functional C4BP beta polypeptide. Thus, the characterization of the murine C4BPB gene documents the peculiar situation of a single-copy gene that is functional in humans but has become a pseudogene in the mouse.(ABSTRACT TRUNCATED AT 250 WORDS)", "publicationTitle": "Genomics", "publisher": "", "place": "", "date": "Jun 1994", "volume": "21", "issue": "3", "section": "", "partNumber": "", "partTitle": "", "pages": "501-9", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Genomics", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/7959726", "accessDate": "2009-04-07T19:05:26Z", "PMID": "", "PMCID": "", "ISSN": "0888-7543", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 7959726", "tags": [ { "tag": "Animals", "type": 1 }, { "tag": "Base Sequence", "type": 1 }, { "tag": "Blotting, Southern", "type": 1 }, { "tag": "Carrier Proteins", "type": 1 }, { "tag": "Complement C4b", "type": 1 }, { "tag": "Complement Inactivator Proteins", "type": 1 }, { "tag": "DNA Primers", "type": 1 }, { "tag": "DNA, Complementary", "type": 1 }, { "tag": "Exons", "type": 1 }, { "tag": "Glycoproteins", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Macromolecular Substances", "type": 1 }, { "tag": "Mice", "type": 1 }, { "tag": "Mice, Inbred BALB C", "type": 1 }, { "tag": "Mice, Inbred C57BL", "type": 1 }, { "tag": "Mice, Inbred CBA", "type": 1 }, { "tag": "Molecular Sequence Data", "type": 1 }, { "tag": "Muridae", "type": 1 }, { "tag": "Oligonucleotide Probes", "type": 1 }, { "tag": "Polymerase Chain Reaction", "type": 1 }, { "tag": "Pseudogenes", "type": 1 }, { "tag": "Restriction Mapping", "type": 1 }, { "tag": "Sequence Homology, Nucleic Acid", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "HUNK82UC", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/HUNK82UC", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/HUNK82UC", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "Yenugu et al.", "parsedDate": "2004-07", "numChildren": 0 }, "data": { "key": "HUNK82UC", "version": 1, "itemType": "journalArticle", "title": "The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin", "creators": [ { "creatorType": "author", "firstName": "Suresh", "lastName": "Yenugu" }, { "creatorType": "author", "firstName": "Katherine G", "lastName": "Hamil" }, { "creatorType": "author", "firstName": "Yashwanth", "lastName": "Radhakrishnan" }, { "creatorType": "author", "firstName": "Frank S", "lastName": "French" }, { "creatorType": "author", "firstName": "Susan H", "lastName": "Hall" } ], "abstractNote": "Spermatozoa bind a variety of proteins as they pass through the proximal regions of the epididymis, where they acquire forward motility and fertilizing ability. Recent evidence indicates that certain epididymis-specific secretory proteins that bind sperm have antibacterial activity and may function as part of the innate immune system. We reported earlier that ESC42, now designated human beta-defensin 118 (DEFB118), is a sperm-binding protein. In this study, we demonstrate that DEFB118 has potent antibacterial activity that is dose, time, and structure dependent. Incubation of Escherichia coli for 60 min with 10 microg/ml DEFB118 reduced bacterial survival to 20% of the control, and 25 microg/ml reduced survival to 5% of the control. DEFB118 concentrations of 50 and 100 microg/ml further reduced survival to less than 2 and 1%, respectively. A biphasic effect of salt concentration on the antibacterial activity of DEFB118 was observed. Reduction of disulfide bonds and alkylation of cysteines resulted in the complete loss of antibacterial activity. DEFB118 caused rapid permeabilization of both outer and inner membranes of E. coli and striking morphological alterations in the bacterial surfaces visible by scanning electron microscopy consistent with a membrane-disruptive mechanism of bacterial killing. In contrast, eukaryotic cell membranes were not permeabilized by DEFB118, as indicated by the rat erythrocyte hemolytic assay. Studies on DEFB118 inhibition of macromolecular synthesis and membrane permeability in E. coli were consistent with a primary effect at the cell membrane level. DEFB118 may contribute to epididymal innate immunity and protect the sperm against attack by microorganisms in the male and female reproductive tracts.", "publicationTitle": "Endocrinology", "publisher": "", "place": "", "date": "Jul 2004", "volume": "145", "issue": "7", "section": "", "partNumber": "", "partTitle": "", "pages": "3165-73", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Endocrinology", "DOI": "10.1210/en.2003-1698", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/15033915", "accessDate": "2009-04-07T19:43:27Z", "PMID": "", "PMCID": "", "ISSN": "0013-7227", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 15033915", "tags": [ { "tag": "Amino Acid Sequence", "type": 1 }, { "tag": "Androgens", "type": 1 }, { "tag": "Animals", "type": 1 }, { "tag": "Cell Membrane", "type": 1 }, { "tag": "Defensins", "type": 1 }, { "tag": "Epididymis", "type": 1 }, { "tag": "Escherichia coli", "type": 1 }, { "tag": "Hemolysis", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Male", "type": 1 }, { "tag": "Microscopy, Electron", "type": 1 }, { "tag": "Molecular Sequence Data", "type": 1 }, { "tag": "Rats", "type": 1 }, { "tag": "Spermatozoa", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } }, { "key": "2ST8GJEH", "version": 1, "library": { "type": "group", "id": 1477, "name": "Genetics", "links": { "alternate": { "href": "https://www.zotero.org/groups/genetics", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/1477/items/2ST8GJEH", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/genetics/items/2ST8GJEH", "type": "text/html" } }, "meta": { "createdByUser": { "id": 27714, "username": "akloster", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/akloster", "type": "text/html" } } }, "creatorSummary": "van Wetering et al.", "parsedDate": "1999-12", "numChildren": 0 }, "data": { "key": "2ST8GJEH", "version": 1, "itemType": "journalArticle", "title": "Defensins: key players or bystanders in infection, injury, and repair in the lung?", "creators": [ { "creatorType": "author", "firstName": "S", "lastName": "van Wetering" }, { "creatorType": "author", "firstName": "P J", "lastName": "Sterk" }, { "creatorType": "author", "firstName": "K F", "lastName": "Rabe" }, { "creatorType": "author", "firstName": "P S", "lastName": "Hiemstra" } ], "abstractNote": "Antimicrobial peptides have been identified as key elements in the innate host defense against infection. Recent studies have indicated that the activity of antimicrobial peptides may be decreased in cystic fibrosis, suggesting a major role for these peptides in host defense against infection. One of the most intensively studied classes of antimicrobial peptides are defensins. Defensins comprise a family of cationic peptides that in human subjects can be divided into the alpha- and beta-defensin subfamilies. The alpha-defensins are produced by neutrophils and intestinal Paneth's cells, whereas beta-defensins are mainly produced by epithelial cells. Although studies on beta-defensins have so far focused on their antimicrobial activity, studies on alpha-defensins have suggested a role of these peptides in inflammation, wound repair, and specific immune responses. alpha-Defensins, which accumulate in airway secretions of patients with various chronic inflammatory lung disorders, were shown to be cytotoxic toward airway epithelial cells and to induce chemokine secretion in several cell types. Furthermore, the capacity of alpha-defensins to promote bacterial adherence to epithelial cells in vitro further supports a role for these peptides in the pathogenesis of chronic obstructive pulmonary disease and cystic fibrosis. Increased numbers of neutrophils are also present in the airways of patients with asthma, suggesting that neutrophils are involved in the pathogenesis of this disease. Because defensins are able to induce histamine release by mast cells and increase the airway hyperresponsiveness to histamine, it is tempting to speculate that defensins may also contribute to the inflammatory processes in asthma. Besides these proinflammatory effects, alpha-defensins may also display anti-inflammatory activities, including regulation of complement activation and proteinase inhibitor secretion. Finally, defensins may be involved in wound repair because defensins increase epithelial cell proliferation. Thus recent defensin research has revealed potential links between the innate and acquired immune system.", "publicationTitle": "The Journal of Allergy and Clinical Immunology", "publisher": "", "place": "", "date": "Dec 1999", "volume": "104", "issue": "6", "section": "", "partNumber": "", "partTitle": "", "pages": "1131-8", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "J Allergy Clin Immunol", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pubmed/10588992", "accessDate": "2009-04-07T19:49:35Z", "PMID": "", "PMCID": "", "ISSN": "0091-6749", "archive": "", "archiveLocation": "", "shortTitle": "Defensins", "language": "", "libraryCatalog": "NCBI PubMed", "callNumber": "", "rights": "", "extra": "PMID: 10588992", "tags": [ { "tag": "Anti-Infective Agents", "type": 1 }, { "tag": "Antibody Formation", "type": 1 }, { "tag": "Defensins", "type": 1 }, { "tag": "Humans", "type": 1 }, { "tag": "Pneumonia", "type": 1 }, { "tag": "Proteins", "type": 1 }, { "tag": "Wound Healing", "type": 1 } ], "collections": [], "relations": {}, "dateAdded": "2009-06-05T14:48:52Z", "dateModified": "2009-06-05T14:48:52Z" } } ]