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A prevalent POLG CAG microsatellite length allele in humans and African great apes

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Abstract

The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase γ (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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Author information

Author notes

  1. David J. Elliott

    Present address: Present address for D.J. Elliott: Institute of Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, NE1 3BZ, England

Authors and Affiliations

  1. Institute of Medical Technology and Tampere University Hospital, University of Tampere, FIN-33014, Tampere, Finland

    Anja T. Rovio & Howard T. Jacobs

  2. Institut fuer umweltmedizinische Forschung GmbH at the University of Duesseldorf, Duesseldorf, 40225, Germany

    Josef Abel & Ellen Fritsche

  3. Department of Anatomy, University of Tampere, FIN-33014, Tampere, Finland

    Arja L. Ahola & Lars Wichmann

  4. Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, 08003, Barcelona, Spain

    Aida M. Andres & Jaume Bertranpetit

  5. Laboratoire d’Immunogénétique Moléculaire Université Paul Sabatier, 31062, Toulouse, France

    Antoine Blancher

  6. Biomedical Primate Research Center, 2280, GH, Rijswlik, Netherlands

    Ronald E. Bontrop & Nel Otting

  7. Center for Reproduction of Endangered Species, Zoological Society of San Diego, San Diego, USA

    Leona G. Chemnick, Heidi A. Davis & Oliver A. Ryder

  8. MRC Human Genetics Unit Edinburgh, Edinburgh, Scotland

    Howard J. Cooke & David J. Elliott

  9. Division of Verterinary and Biomedical sciences, Murdoch University, Murdoch, Western Australia

    James M. Cummins & Denise Mehmet

  10. Department of Urology, Western General Hospital, Edinburgh, EH4 2XU, Scotland

    Timothy B. Hargreave

  11. Department of Zoology, Miami University, Oxford, Ohio, 45056, USA

    Susan M. G. Hoffman

  12. Joonadalup Health Campus, Perth, 6027, Western Australia

    Anne M. Jequier

  13. Department of Biochemistry, National Yang Ming University, Taipei, 112, Taiwan

    Yau-Huei Wei

  14. Division of Biological Science, Pusah National University, 609-735, Pusah, Korea

    Shu-Huei Kao & Heui-Soo Kim

  15. Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, OX3 9DU, England

    David R. Marchington & Joanna Poulton

  16. Center of Dermatology and Andrology, Justus Liebig University, 35392, Giessen, Germany

    Hans-Christian Schuppe

  17. Department of Cellular and Molecular Biology, Primate Research Institute, Kyoto University, Aichi, 484-8506, Japan

    Osamu Takenaka

  18. Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, Scotland

    Howard T. Jacobs

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  1. Anja T. Rovio
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Correspondence to Howard T. Jacobs.

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Rovio, A.T., Abel, J., Ahola, A.L. et al. A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mamm Genome 15, 492–502 (2004). https://doi.org/10.1007/s00335-004-3049-x

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  • DOI: https://doi.org/10.1007/s00335-004-3049-x

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