Duplication and positive selection among hominin-specific PRAME genes.docVIP

BMC Genomics BioMedCentral Research article Open Access Duplication and positive selection among hominin-specific PRAME genes Zo? Birtle, Leo Goodstadt and Chris Ponting* Address: MRC Functional Genetics Unit, University of Oxford, Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX UK Email: Zo? Birtle - zoe.birtle@anat.ox.ac.uk; Leo Goodstadt - leo.goodstadt@anat.ox.ac.uk; Chris Ponting* - chris.ponting@anat.ox.ac.uk * Corresponding author Published: 13 September 2005 Received: 24 March 2005 Accepted: 13 September 2005 BMC Genomics 2005, 6:120 doi:10.1186/1471-2164-6-120 This article is available from: /1471-2164/6/120 ? 2005 Birtle 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: The physiological and phenotypic differences between human and chimpanzee are largely specified by our genomic differences. We have been particularly interested in recent duplications in the human genome as examples of relatively large-scale changes to our genome. We performed an in-depth evolutionary analysis of a region of chromosome 1, which is copy number polymorphic among humans, and that contains at least 32 PRAME (Preferentially expressed antigen of melanoma) genes and pseudogenes. PRAME-like genes are expressed in the testis and in a large number of tumours, and are thought to possess roles in spermatogenesis and oogenesis. Results: Using nucleotide substitution rate estimates for exons and introns, we show that two large segmental duplications, of six and seven human PRAME genes respectively, occurred in the last 3 million years. These duplicated genes are thus hominin-specific, having arisen in our genome since the divergence from chimpanzee. This c