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Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

Nature Genetics volume 29, pages 261–262 (2001)Cite this article

Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, ten-repeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

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Figure 1: POLG genotype in infertile and fertile males, plus control individuals (see Web Table A for details).

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Acknowledgements

We are grateful to J.N. Spelbrink, J. Montoya, J.A. Enriquez and M. Lopez-Perez for useful discussions, to A. Butler for technical assistance, to D.H. Barlow and L. Maciocia for provision of sperm samples and to D.W. Phillips for control DNAs. Our research is supported by the Tampere University Hospital Medical Research Fund, the Academy of Finland, the Wellcome Trust, the UK Medical Research Council, the Irish Health Research Board (project grant 101/97) and the Royal Society.

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Author notes

  1. David J. Elliott

    Present address: Institute of Human Genetics, University of Newcastle-upon-Tyne, England

  2. David M.D. Bailey

    Present address: Department of Chemical Engineering, University of Cambridge, England

Authors and Affiliations

  1. Ancobio Ltd, Glasgow, Scotland

    Anja T. Rovio & Howard T. Jacobs

  2. Institute of Medical Technology, University of Tampere, Finland

    Anja T. Rovio, David McNay & Howard T. Jacobs

  3. Tampere University Hospital, University of Tampere, Finland

    Anja T. Rovio, Pekka Laippala, Lars Wichmann & Howard T. Jacobs

  4. Biometry Unit, School of Public Health, University of Tampere, Finland

    Pekka Laippala

  5. Department of Anatomy, University of Tampere, Finland

    Arja L. Ahola

  6. Department of Paediatrics, University of Oxford, England

    David R. Marchington & Joanna Poulton

  7. Department of Experimental Toxicology, Medical Institute of Environmental Hygiene, University of Duesseldorf, Germany

    Susanne Donat, Josef Abel & Ellen Fritsche

  8. Centre of Dermatology and Andrology, Justus Liebig University, Giessen, Germany

    Hans-Christian Schuppe

  9. MRC Human Genetics Unit, Edinburgh, Scotland

    Hans-Christian Schuppe, David J. Elliott & Howard J. Cooke

  10. Human Assisted Reproduction Ireland, Rotunda Hospital, Dublin, Ireland

    Robert F. Harrison, Barbara Hughes & Thomas Barrett

  11. National Centre for Medical Genetics, University College, Dublin, Ireland

    Thomas Barrett, David M.D. Bailey & David E. Barton

  12. Division of Veterinary and Biomedical Sciences, Murdoch University, Western Australia

    Denise Mehmet & James M. Cummins

  13. Joondalup Health Campus, Perth, Western Australia

    Anne M. Jequier

  14. Department of Urology, Western General Hospital, Edinburgh, Scotland

    Tim B. Hargreave

  15. Department of Biochemistry, National Yang-Ming University, Taipei, Taiwan

    Shu-Huei Kao & Yau-Huei Wei

  16. Institute of Biomedical and Life Sciences, University of Glasgow, Scotland

    Howard T. Jacobs

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  1. Anja T. Rovio
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Corresponding author

Correspondence to Howard T. Jacobs.

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Rovio, A., Marchington, D., Donat, S. et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29, 261–262 (2001). https://doi.org/10.1038/ng759

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