Death and Resurrection of the Human <italic>IRGM</italic> Gene Export

@article{citeulike:4144386, abstract = {<title>Author Summary</title> <p>The <italic>IRG</italic> gene family plays an important role in defense against intracellular bacteria, and genome-wide association studies have implicated structural variants of the single-copy human <italic>IRGM</italic> locus as a risk factor for Crohn's disease. We reconstruct the evolutionary history of this region among primates and show that the ancestral tandem gene family contracted to a single pseudogene within the ancestral lineage of apes and monkeys. Phylogenetic analyses support a model where the gene has been ” dead” for at least 25 million years of human primate evolution but whose ORF became restored in all human and great ape lineages. We suggest that the rebirth or restoration of the gene coincided with the insertion of an endogenous retrovirus, which now serves as the functional promoter driving human gene expression. We suggest that either the gene is not functional in humans or this represents one of the first documented examples of gene death and rebirth.</p>}, author = {Bekpen, Cemalettin and Marques-Bonet, Tomas and Alkan, Can and Antonacci, Francesca and Leogrande, Maria B. and Ventura, Mario and Kidd, Jeffrey M. and Siswara, Priscillia and Howard, Jonathan C. and Eichler, Evan E.}, citeulike-article-id = {4144386}, citeulike-linkout-0 = {http://dx.doi.org/10.1371/journal.pgen.1000403}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19266026}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19266026}, day = {6}, doi = {10.1371/journal.pgen.1000403}, journal = {PLoS Genet}, keywords = {gene\_loss}, month = {March}, number = {3}, pages = {e1000403+}, posted-at = {2009-03-06 19:11:48}, priority = {2}, publisher = {Public Library of Science}, title = {Death and Resurrection of the Human <italic>IRGM</italic> Gene}, url = {http://dx.doi.org/10.1371/journal.pgen.1000403}, volume = {5}, year = {2009} }

TY - JOUR ID - citeulike:4144386 L3 - citeulike-article-id:4144386 N2 - <title>Author Summary</title> <p>The <italic>IRG</italic> gene family plays an important role in defense against intracellular bacteria, and genome-wide association studies have implicated structural variants of the single-copy human <italic>IRGM</italic> locus as a risk factor for Crohn's disease. We reconstruct the evolutionary history of this region among primates and show that the ancestral tandem gene family contracted to a single pseudogene within the ancestral lineage of apes and monkeys. Phylogenetic analyses support a model where the gene has been “dead” for at least 25 million years of human primate evolution but whose ORF became restored in all human and great ape lineages. We suggest that the rebirth or restoration of the gene coincided with the insertion of an endogenous retrovirus, which now serves as the functional promoter driving human gene expression. We suggest that either the gene is not functional in humans or this represents one of the first documented examples of gene death and rebirth.</p> IS - 3 JF - PLoS Genet TI - Death and Resurrection of the Human <italic>IRGM</italic> Gene PB - Public Library of Science VL - 5 SP - e1000403 KW - gene_loss AU - Bekpen, Cemalettin AU - Marques-Bonet, Tomas AU - Alkan, Can AU - Antonacci, Francesca AU - Leogrande, Maria AU - Ventura, Mario AU - Kidd, Jeffrey AU - Siswara, Priscillia AU - Howard, Jonathan AU - Eichler, Evan PY - 2009/03/06/ UR - http://dx.doi.org/10.1371/journal.pgen.1000403 ER -