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

Anja T. Rovio, David R. Marchington, Susanne Donat, Hans Christian Schuppe, Josef Abel, Ellen Fritsche, David J. Elliott, Pekka Laippala, Arja L. Ahola, David McNay, Robert F. Harrison, Barbara Hughes, Thomas Barrett, David M D Bailey, Denise Mehmet, Anne M. Jequier, Tim B. Hargreave, Shu Huei Kao, James M. Cummins, David E. BartonHoward J. Cooke, Yau Huei Wei, Lars Wichmann, Joanna Poulton, Howard T. Jacobs

Research output: Contribution to journalArticle

152 Citations (Scopus)

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, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

Original languageEnglish
Pages (from-to)261-262
Number of pages2
JournalNature Genetics
Volume29
Issue number3
DOIs
Publication statusPublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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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. D., 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), 261-262. https://doi.org/10.1038/ng759