Evolutionary fate of retroposed gene copies in the human genome.

Details

Serval ID
serval:BIB_D954A7EBB2FF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Evolutionary fate of retroposed gene copies in the human genome.
Journal
Proceedings of the National Academy of Sciences of the United States of America
Author(s)
Vinckenbosch N., Dupanloup I., Kaessmann H.
ISSN
0027-8424
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
103
Number
9
Pages
3220-3225
Language
english
Abstract
Given that retroposed copies of genes are presumed to lack the regulatory elements required for their expression, retroposition has long been considered a mechanism without functional relevance. However, through an in silico assay for transcriptional activity, we identify here >1,000 transcribed retrocopies in the human genome, of which at least approximately 120 have evolved into bona fide genes. Among these, approximately 50 retrogenes have evolved functions in testes, more than half of which were recruited as functional autosomal counterparts of X-linked genes during spermatogenesis. Generally, retrogenes emerge "out of the testis," because they are often initially transcribed in testis and later evolve stronger and sometimes more diverse spatial expression patterns. We find a significant excess of transcribed retrocopies close to other genes or within introns, suggesting that retrocopies can exploit the regulatory elements and/or open chromatin of neighboring genes to become transcribed. In direct support of this hypothesis, we identify 36 retrocopy-host gene fusions, including primate-specific chimeric genes. Strikingly, 27 intergenic retrogenes have acquired untranslated exons de novo during evolution to achieve high expression levels. Notably, our screen for highly transcribed retrocopies also uncovered a retrogene linked to a human recessive disorder, gelatinous drop-like corneal dystrophy, a form of blindness. These functional implications for retroposition notwithstanding, we find that the insertion of retrocopies into genes is generally deleterious, because it may interfere with the transcription of host genes. Our results demonstrate that natural selection has been fundamental in shaping the retrocopy repertoire of the human genome.
Keywords
Disease, Evolution, Molecular, Gene Dosage, Genome, Human, Humans, Promoter Regions, Genetic, Retroelements, Selection (Genetics), Transcription, Genetic
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 15:41
Last modification date
20/08/2019 15:58
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