A prevalent POLG CAG microsatellite length allele in humans and African great apes |
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| Authors: | Anja T. Rovio Josef Abel Arja L. Ahola Aida M. Andres Jaume Bertranpetit Antoine Blancher Ronald E. Bontrop Leona G. Chemnick Howard J. Cooke James M. Cummins Heidi A. Davis David J. Elliott Ellen Fritsche Timothy B. Hargreave Susan M. G. Hoffman Anne M. Jequier Shu-Huei Kao Heui-Soo Kim David R. Marchington Denise Mehmet Nel Otting Joanna Poulton Oliver A. Ryder Hans-Christian Schuppe Osamu Takenaka Yau-Huei Wei Lars Wichmann Howard T. Jacobs |
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| Affiliation: | (1) Institute of Medical Technology and Tampere University Hospital, University of Tampere, FIN-33014, Finland;(2) Institut fuer umweltmedizinische Forschung GmbH at the University of Duesseldorf, 40225, Germany;(3) Department of Anatomy, University of Tampere, FIN-33014, Finland;(4) Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, 08003 Barcelona, Spain;(5) Laboratoire d!["rsquo"]("/content/u4c2nwlrw5ktvb7j/xlarge8217.gif") Immunogénétique Moléculaire Université Paul Sabatier, 31062 Toulouse, France;(6) Biomedical Primate Research Center, 2280, GH, Rijswlik, Netherlands;(7) Center for Reproduction of Endangered Species, Zoological Society of San Diego, USA;(8) MRC Human Genetics Unit Edinburgh, Scotland;(9) Division of Verterinary and Biomedical sciences, Murdoch University, Western Australia;(10) Department of Urology, Western General Hospital, Edinburgh, EH4 2XU, Scottland;(11) Departmentof Zoology, Miami University, Oxford, Ohio 45056, USA;(12) Joonadalup Health Campus, Perth, 6027, Western Australia;(13) Department of Biochemistry, National Yang Ming University, Taipei, 112, Taiwan;(14) Division of Biological Science, Pusah National University, 609-735, Korea;(15) Nuffield Department of Obstetrics and Gynaecology, University of Oxford, OX3 9DU, England;(16) Center of Dermatology and Andrology, Justus Liebig University, 35392 Giessen, Germany;(17) Department of Cellular and Molecular Biology, Primate Research Institute, Kyoto University, Aichi, 484-8506, Japan;(18) Institute of Biomedical and Life Sciences, University of Glasgow, G12 8QQ, Scotland;(19) Present address: Institute of Human Genetics, University of Newcastle-upon-Tyne, NE1 3BZ, England |
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| Abstract: | The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase  (POLG) contains within its coding region a CAG microsatellite encoding a polyglutamine repeat. Previous studies demonstrated an association between length variation at this repeat and male infertility, suggesting a mechanism whereby the prevalent (CAG)10 allele, which occurs at a frequency of >80% in different populations, could be maintained by selection. Sequence analysis of the POLG CAG microsatellite region of more than 1000 human chromosomes reveals that virtually all allelic variation at the locus is accounted for by length variation of the CAG repeat. Analysis of POLG from African great apes shows that a prevalent length allele is present in each species, although its exact length is species-specific. In common chimpanzee (Pan troglodytes) a number of different sequence variants contribute to the prevalent length allele, strongly supporting the idea that the length of the POLG microsatellite region, rather than its exact nucleotide or amino acid sequence, is what is maintained. Analysis of POLG in other primates indicates that the repeat has expanded from a shorter, glutamine-rich sequence, present in the common ancestor of Old and New World monkeys. |
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