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

Research output: Contribution to journalArticle

151 Citations (Scopus)

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

    Fingerprint

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

Cite this

Rovio, A. T., Marchington, D. R., Donat, S., Schuppe, H. C., Abel, J., Fritsche, E., ... 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