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

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...

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Veröffentlicht in:	Nature genetics 2001-11, Vol.29 (3), p.261-262
Hauptverfasser:	Jacobs, Howard T, Rovio, Anja T, Marchington, David R, Donat, Susanne, Schuppe, Hans-Christian, Abel, Josef, Fritsche, Ellen, Elliott, David J, Laippala, Pekka, Ahola, Arja L, McNay, David, Harrison, Robert F, Hughes, Barbara, Barrett, Thomas, Bailey, David M.D, Mehmet, Denise, Jequier, Anne M, Hargreave, Tim B, Kao, Shu-Huei, Cummins, James M, Barton, David E, Cooke, Howard J, Wei, Yau-Huei, Wichmann, Lars, Poulton, Joanna
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Alleles Animal Genetics and Genomics Asian Continental Ancestry Group - genetics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research DNA polymerase DNA Polymerase gamma DNA polymerases DNA, Mitochondrial - genetics DNA-Directed DNA Polymerase - chemistry DNA-Directed DNA Polymerase - genetics European Continental Ancestry Group - genetics Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes. Genome Genetic aspects Genetic Predisposition to Disease - genetics Genotype & phenotype Genotypes Homozygote Human Genetics Humans Infertility Infertility, Male - genetics Infertility, Male - pathology Male Males Microsatellite Repeats - genetics Mitochondrial DNA Molecular and cellular biology Molecular genetics Mutation Mutation - genetics Peptides - genetics Peptides - metabolism Phenotype Physiological aspects POLG gene Publishing Sperm Spermatozoa - enzymology Spermatozoa - metabolism Spermatozoa - pathology
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Beschreibung
Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng759