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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166 Citations (Scopus)


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
Issue number3
Publication statusPublished - 2001


  • 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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