title: A prevalent POLG CAG microsatellite length allele in humans and African great apes.
abstract: 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 a mechanism whereby the prevalent (CAG)(10) allele, which occurs at a frequency of >80% in different populations, could be maintained by selection. Sequence analysis of the POLG CAG microsatellite region of more than 1000 human chromosomes reveals that virtually all allelic variation at the locus is accounted for by length variation of the CAG repeat. Analysis of POLG from African great apes shows that a prevalent length allele is present in each species, although its exact length is species-specific. In common chimpanzee ( Pan troglodytes) a number of different sequence variants contribute to the prevalent length allele, strongly supporting the idea that the length of the POLG microsatellite region, rather than its exact nucleotide or amino acid sequence, is what is maintained. Analysis of POLG in other primates indicates that the repeat has expanded from a shorter, glutamine-rich sequence, present in the common ancestor of Old and New World monkeys.
authors.affiliation: Institute of Medical Technology and Tampere University Hospital, University of Tampere, FIN-33014, Finland.
authors.forename: Anja T
authors.initials: AT
authors.lastname: Rovio
authors.forename: Josef
authors.initials: J
authors.lastname: Abel
authors.forename: Arja L
authors.initials: AL
authors.lastname: Ahola
authors.forename: Aida M
authors.initials: AM
authors.lastname: Andres
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: Antoine
authors.initials: A
authors.lastname: Blancher
authors.forename: Ronald E
authors.initials: RE
authors.lastname: Bontrop
authors.forename: Leona G
authors.initials: LG
authors.lastname: Chemnick
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Cooke
authors.forename: James M
authors.initials: JM
authors.lastname: Cummins
authors.forename: Heidi A
authors.initials: HA
authors.lastname: Davis
authors.forename: David J
authors.initials: DJ
authors.lastname: Elliott
authors.forename: Ellen
authors.initials: E
authors.lastname: Fritsche
authors.forename: Timothy B
authors.initials: TB
authors.lastname: Hargreave
authors.forename: Susan M G
authors.initials: SM
authors.lastname: Hoffman
authors.forename: Anne M
authors.initials: AM
authors.lastname: Jequier
authors.forename: Shu-Huei
authors.initials: SH
authors.lastname: Kao
authors.forename: Heui-Soo
authors.initials: HS
authors.lastname: Kim
authors.forename: David R
authors.initials: DR
authors.lastname: Marchington
authors.forename: Denise
authors.initials: D
authors.lastname: Mehmet
authors.forename: Nel
authors.initials: N
authors.lastname: Otting
authors.forename: Joanna
authors.initials: J
authors.lastname: Poulton
authors.forename: Oliver A
authors.initials: OA
authors.lastname: Ryder
authors.forename: Hans-Christian
authors.initials: HC
authors.lastname: Schuppe
authors.forename: Osamu
authors.initials: O
authors.lastname: Takenaka
authors.forename: Yau-Huei
authors.initials: YH
authors.lastname: Wei
authors.forename: Lars
authors.initials: L
authors.lastname: Wichmann
authors.forename: Howard T
authors.initials: HT
authors.lastname: Jacobs
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D000882:Haplorhini / Q000235:genetics; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D018911:Trinucleotide Repeats
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase