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

BMC Genomics BioMedCentral Research article Open Access Duplication and relocation of the functional DPY19L2 gene within low copy repeats Andrew R Carson1,2, Joseph Cheung1 and Stephen W Scherer*1,2 Address: 1Department of Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada and 2Department of Medical and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Email: Andrew R Carson - acarson@sickkids.ca; Joseph Cheung - joe@genet.sickkids.on.ca; Stephen W Scherer* - swscherer@sickkids.ca * Corresponding author Published: 09 March 2006 Received: 13 January 2006 Accepted: 09 March 2006 BMC Genomics 2006, 7:45 doi:10.1186/1471-2164-7-45 This article is available from: /1471-2164/7/45 ? 2006 Carson et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract 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