http://purl.uniprot.org/citations/12734011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/12734011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/12734011 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundInnate immunity is the first line of defense against microorganisms in vertebrates and acts by providing an initial barrier to microorganisms and triggering adaptive immune responses. Peptides such as beta-defensins are an important component of this defense, providing a broad spectrum of antimicrobial activity against bacteria, fungi, mycobacteria and several enveloped viruses. Beta-defensins are small cationic peptides that vary in their expression patterns and spectrum of pathogen specificity. Disruptions in beta-defensin function have been implicated in human diseases, including cystic fibrosis, and a fuller understanding of the variety, function and evolution of human beta-defensins might form the basis for novel therapies. Here we use a combination of laboratory and computational techniques to characterize the main human beta-defensin locus on chromosome 8p22-p23.ResultsIn addition to known genes in the region we report the genomic structures and expression patterns of four novel human beta-defensin genes and a related pseudogene. These genes show an unusual pattern of evolution, with rapid divergence between second exon sequences that encode the mature beta-defensin peptides matched by relative stasis in first exons that encode signal peptides.ConclusionsWe conclude that the 8p22-p23 locus has evolved by successive rounds of duplication followed by substantial divergence involving positive selection, to produce a diverse cluster of paralogous genes established before the human-baboon divergence more than 23 million years ago. Positive selection, disproportionately favoring alterations in the charge of amino-acid residues, is implicated as driving second exon divergence in these genes."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.org/dc/terms/identifier | "doi:10.1186/gb-2003-4-5-r31"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.org/dc/terms/identifier | "doi:10.1186/gb-2003-4-5-r31"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Semple C.A."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Dorin J.R."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Dorin J.R."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Rolfe M."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Rolfe M."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Semple C.A.M."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/author | "Semple C.A.M."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/name | "Genome Biol."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/name | "Genome Biol."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/pages | "R31.1-R31.11"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/pages | "R31.1-R31.11"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/title | "Duplication and selection in the evolution of primate beta-defensin genes."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/title | "Duplication and selection in the evolution of primate beta-defensin genes."xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/volume | "4"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://purl.uniprot.org/core/volume | "4"xsd:string |
http://purl.uniprot.org/citations/12734011 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12734011 |
http://purl.uniprot.org/citations/12734011 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12734011 |
http://purl.uniprot.org/citations/12734011 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12734011 |