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.D. Bailey; D. Mehmet; A.M. Jequier; T.B. Hargreave; S-H Kao; J.M. Cummins; D.E. Barton; H.J. Cooke; Y-H Wei; L. Wichmann; J. Poulton; H.T. Jacobs

doi:10.1038/ng759

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

Journal article

Peer reviewed

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, …

Nature Genetics, Vol.29(3), pp.261-262

2001

DOI: https://doi.org/10.1038/ng759

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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.

Details

Title: Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
Authors/Creators: A.T. Rovio (Author/Creator)
D.R. Marchington (Author/Creator)
S. Donat (Author/Creator)
H-C Schuppe (Author/Creator)
J. Abel (Author/Creator)
E. Fritsche (Author/Creator)
D.J. Elliott (Author/Creator)
P. Laippala (Author/Creator)
A.L. Ahola (Author/Creator)
D. McNay (Author/Creator)
R.F. Harrison (Author/Creator)
B. Hughes (Author/Creator)
T. Barrett (Author/Creator)
D.M.D. Bailey (Author/Creator)
D. Mehmet (Author/Creator)
A.M. Jequier (Author/Creator)
T.B. Hargreave (Author/Creator)
S-H Kao (Author/Creator)
J.M. Cummins (Author/Creator)
D.E. Barton (Author/Creator)
H.J. Cooke (Author/Creator)
Y-H Wei (Author/Creator)
L. Wichmann (Author/Creator)
J. Poulton (Author/Creator)
H.T. Jacobs (Author/Creator)
Publication Details: Nature Genetics, Vol.29(3), pp.261-262
Publisher: Nature Publishing Group
Identifiers: 991005545058307891
Murdoch Affiliation: School of Veterinary and Biomedical Sciences
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.197 Molecular & Cell Biology - Mitochondria; 1.197.564 Mitochondrial Function
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics