Diversity through duplication: Whole-genome sequencing reveals novel gene retrocopies in the human population

Richardson, Sandra R., Salvador-Palomeque, Carmen and Faulkner, Geoffrey J. (2014) Diversity through duplication: Whole-genome sequencing reveals novel gene retrocopies in the human population. BioEssays, 36 5: 475-481. doi:10.1002/bies.201300181


Author Richardson, Sandra R.
Salvador-Palomeque, Carmen
Faulkner, Geoffrey J.
Title Diversity through duplication: Whole-genome sequencing reveals novel gene retrocopies in the human population
Journal name BioEssays   Check publisher's open access policy
ISSN 0265-9247
1521-1878
Publication date 2014-01-01
Year available 2014
Sub-type Article (original research)
DOI 10.1002/bies.201300181
Open Access Status Not yet assessed
Volume 36
Issue 5
Start page 475
End page 481
Total pages 7
Place of publication Chichester, West Sussex, United Kingdom
Publisher John Wiley and Sons Inc.
Language eng
Subject 1300 Biochemistry, Genetics and Molecular Biology
Abstract Gene retrocopies are generated by reverse transcription and genomic integration of mRNA. As such, retrocopies present an important exception to the central dogma of molecular biology, and have substantially impacted the functional landscape of the metazoan genome. While an estimated 8,000-17,000 retrocopies exist in the human genome reference sequence, the extent of variation between individuals in terms of retrocopy content has remained largely unexplored. Three recent studies by Abyzov et al., Ewing et al. and Schrider et al. have exploited 1,000 Genomes Project Consortium data, as well as other sources of whole-genome sequencing data, to uncover novel gene retrocopies. Here, we compare the methods and results of these three studies, highlight the impact of retrocopies in human diversity and genome evolution, and speculate on the potential for somatic gene retrocopies to impact cancer etiology and genetic diversity among individual neurons in the mammalian brain.
Keyword Pseudogene
Retrocopy
Retrogene
Retrotransposition
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID GNT1045237
GNT1042449
259743
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Biomedical Sciences Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 11 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 13 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 29 Apr 2014, 11:26:18 EST by System User on behalf of School of Biomedical Sciences