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Duplication and relocation of the functional DPY19L2 gene within low copy repeats

BACKGROUND: Low copy repeats (LCRs) are thought to play an important role in recent gene evolution, especially when they facilitate gene duplications. Duplicate genes are fundamental to adaptive evolution, providing substrates for the development of new or shared gene functions. Moreover, silencing...

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Autores principales: Carson, Andrew R, Cheung, Joseph, Scherer, Stephen W
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475853/
https://www.ncbi.nlm.nih.gov/pubmed/16526957
http://dx.doi.org/10.1186/1471-2164-7-45
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author Carson, Andrew R
Cheung, Joseph
Scherer, Stephen W
author_facet Carson, Andrew R
Cheung, Joseph
Scherer, Stephen W
author_sort Carson, Andrew R
collection PubMed
description BACKGROUND: Low copy repeats (LCRs) are thought to play an important role in recent gene evolution, especially when they facilitate gene duplications. Duplicate genes are fundamental to adaptive evolution, providing substrates for the development of new or shared gene functions. Moreover, silencing of duplicate genes can have an indirect effect on adaptive evolution by causing genomic relocation of functional genes. These changes are theorized to have been a major factor in speciation. RESULTS: Here we present a novel example showing functional gene relocation within a LCR. We characterize the genomic structure and gene content of eight related LCRs on human Chromosomes 7 and 12. Two members of a novel transmembrane gene family, DPY19L, were identified in these regions, along with six transcribed pseudogenes. One of these genes, DPY19L2, is found on Chromosome 12 and is not syntenic with its mouse orthologue. Instead, the human locus syntenic to mouse Dpy19l2 contains a pseudogene, DPY19L2P1. This indicates that the ancestral copy of this gene has been silenced, while the descendant copy has remained active. Thus, the functional copy of this gene has been relocated to a new genomic locus. We then describe the expansion and evolution of the DPY19L gene family from a single gene found in invertebrate animals. Ancient duplications have led to multiple homologues in different lineages, with three in fish, frogs and birds and four in mammals. CONCLUSION: Our results show that the DPY19L family has expanded throughout the vertebrate lineage and has undergone recent primate-specific evolution within LCRs.
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spelling pubmed-14758532006-06-10 Duplication and relocation of the functional DPY19L2 gene within low copy repeats Carson, Andrew R Cheung, Joseph Scherer, Stephen W BMC Genomics Research Article BACKGROUND: Low copy repeats (LCRs) are thought to play an important role in recent gene evolution, especially when they facilitate gene duplications. Duplicate genes are fundamental to adaptive evolution, providing substrates for the development of new or shared gene functions. Moreover, silencing of duplicate genes can have an indirect effect on adaptive evolution by causing genomic relocation of functional genes. These changes are theorized to have been a major factor in speciation. RESULTS: Here we present a novel example showing functional gene relocation within a LCR. We characterize the genomic structure and gene content of eight related LCRs on human Chromosomes 7 and 12. Two members of a novel transmembrane gene family, DPY19L, were identified in these regions, along with six transcribed pseudogenes. One of these genes, DPY19L2, is found on Chromosome 12 and is not syntenic with its mouse orthologue. Instead, the human locus syntenic to mouse Dpy19l2 contains a pseudogene, DPY19L2P1. This indicates that the ancestral copy of this gene has been silenced, while the descendant copy has remained active. Thus, the functional copy of this gene has been relocated to a new genomic locus. We then describe the expansion and evolution of the DPY19L gene family from a single gene found in invertebrate animals. Ancient duplications have led to multiple homologues in different lineages, with three in fish, frogs and birds and four in mammals. CONCLUSION: Our results show that the DPY19L family has expanded throughout the vertebrate lineage and has undergone recent primate-specific evolution within LCRs. BioMed Central 2006-03-09 /pmc/articles/PMC1475853/ /pubmed/16526957 http://dx.doi.org/10.1186/1471-2164-7-45 Text en Copyright © 2006 Carson et al; licensee BioMed Central Ltd.
spellingShingle Research Article
Carson, Andrew R
Cheung, Joseph
Scherer, Stephen W
Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title_full Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title_fullStr Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title_full_unstemmed Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title_short Duplication and relocation of the functional DPY19L2 gene within low copy repeats
title_sort duplication and relocation of the functional dpy19l2 gene within low copy repeats
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475853/
https://www.ncbi.nlm.nih.gov/pubmed/16526957
http://dx.doi.org/10.1186/1471-2164-7-45
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