Article
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.
Nature genetics - 1 Nov 2001
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, 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, Jacobs H T
Abstract excerpt
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.
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