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

A T Rovio, D R Marchington, S Donat, H C Schuppe, J Abel, E Fritsche, D J Elliott, P Laippala, A L Ahola, D McNay, R F Harrison, B Hughes, T Barrett, D M Bailey, D Mehmet, A M Jequier, T B Hargreave, S H Kao, J M Cummins, D E BartonH J Cooke, Y H Wei, L Wichmann, J Poulton, H T Jacobs

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Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat. 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.
Original languageEnglish
Pages (from-to)261-2
Number of pages2
JournalNature Genetics
Volume29
Issue number3
DOIs
Publication statusPublished - 2001

Keywords

  • Alleles
  • Asian Continental Ancestry Group
  • DNA, Mitochondrial
  • DNA-Directed DNA Polymerase
  • European Continental Ancestry Group
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Infertility, Male
  • Male
  • Microsatellite Repeats
  • Mutation
  • Peptides
  • Phenotype
  • Spermatozoa

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    Rovio, A. T., Marchington, D. R., Donat, S., Schuppe, H. C., Abel, J., Fritsche, E., Elliott, D. J., Laippala, P., Ahola, A. L., McNay, D., Harrison, R. F., Hughes, B., Barrett, T., Bailey, D. M., Mehmet, D., Jequier, A. M., Hargreave, T. B., Kao, S. H., Cummins, J. M., ... Jacobs, H. T. (2001). Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics, 29(3), 261-2. https://doi.org/10.1038/ng759