A prevalent POLG CAG microsatellite length allele in humans and African great apes

• Published in: Mammalian genome Vol. 15; no. 6; pp. 492 - 502
• Main Authors: Rovio, Anja T, Abel, Josef, Ahola, Arja L, Andres, Aida M, Bertranpetit, Jaume, Blancher, Antoine, Bontrop, Ronald E, Chemnick, Leona G, Cooke, Howard J, Cummins, James M, Davis, Heidi A, Elliott, David J, Fritsche, Ellen, Hargreave, Timothy B, Hoffman, Susan M G, Jequier, Anne M, Kao, Shu-Huei, Kim, Heui-Soo, Marchington, David R, Mehmet, Denise, Otting, Nel, Poulton, Joanna, Ryder, Oliver A, Schuppe, Hans-Christian, Takenaka, Osamu, Wei, Yau-Huei, Wichmann, Lars, Jacobs, Howard T
• Format: Journal Article
• Language: English
• Published: United States Springer Nature B.V 01.06.2004
• Subjects: Alleles; Amino Acid Sequence; Animals; Base Sequence; DNA Polymerase gamma; DNA-directed DNA polymerase; DNA-Directed DNA Polymerase - genetics; Glutamine; Haplorhini - genetics; Hominidae - genetics; Humans; Infertility; Mitochondrial DNA; Molecular Sequence Data; Monkeys & apes; Pan troglodytes; Polyglutamine; Population genetics; Primates; Trinucleotide repeat diseases; Trinucleotide Repeats; Variation

The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase gamma ( POLG) contains within its coding region a CAG microsatellite encoding a polyglutamine repeat. Previous studies demonstrated an association between length variation at this repeat and male infertility, suggesting...