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

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., Barton, D.E., Cooke, H.J., Wei, Y-H, Wichmann, L., Poulton, J. and Jacobs, H.T. (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics, 29 (3). pp. 261-262.

Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat 1,2. 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.

Item Type:	Journal Article
Murdoch Affiliation(s):	School of Veterinary and Biomedical Sciences
Publisher:	Nature Publishing Group
URI:	http://researchrepository.murdoch.edu.au/id/eprint/16863

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