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

Nat Genet. 2001 Nov;29(3):261-2. doi: 10.1038/ng759.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian Continental Ancestry Group / genetics
  • DNA Polymerase gamma
  • DNA, Mitochondrial / genetics*
  • DNA-Directed DNA Polymerase / chemistry
  • DNA-Directed DNA Polymerase / genetics*
  • European Continental Ancestry Group / genetics
  • Genetic Predisposition to Disease / genetics*
  • Homozygote
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Microsatellite Repeats / genetics
  • Mutation / genetics*
  • Peptides / genetics
  • Peptides / metabolism
  • Phenotype
  • Spermatozoa / enzymology
  • Spermatozoa / metabolism
  • Spermatozoa / pathology

Substances

  • DNA, Mitochondrial
  • Peptides
  • polyglutamine
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human