Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Asian People / genetics
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DNA Polymerase gamma
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DNA, Mitochondrial / genetics*
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DNA-Directed DNA Polymerase / chemistry
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DNA-Directed DNA Polymerase / genetics*
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Genetic Predisposition to Disease / genetics*
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Homozygote
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Humans
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Infertility, Male / genetics*
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Infertility, Male / pathology
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Male
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Microsatellite Repeats / genetics
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Mutation / genetics*
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Peptides / genetics
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Peptides / metabolism
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Phenotype
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Spermatozoa / enzymology
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Spermatozoa / metabolism
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Spermatozoa / pathology
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White People / genetics
Substances
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DNA, Mitochondrial
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Peptides
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polyglutamine
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human