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

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...

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Published inMammalian 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
LanguageEnglish
Published United States Springer Nature B.V 01.06.2004
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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.
AbstractList 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.
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) sub(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.
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.
The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase γ (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.
Author Kim, Heui-Soo
Andres, Aida M
Hoffman, Susan M G
Takenaka, Osamu
Ahola, Arja L
Jequier, Anne M
Otting, Nel
Schuppe, Hans-Christian
Jacobs, Howard T
Rovio, Anja T
Abel, Josef
Marchington, David R
Cummins, James M
Elliott, David J
Kao, Shu-Huei
Wei, Yau-Huei
Chemnick, Leona G
Wichmann, Lars
Fritsche, Ellen
Blancher, Antoine
Ryder, Oliver A
Cooke, Howard J
Poulton, Joanna
Davis, Heidi A
Hargreave, Timothy B
Bertranpetit, Jaume
Mehmet, Denise
Bontrop, Ronald E
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Snippet The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase gamma ( POLG) contains within its coding region a CAG microsatellite encoding...
The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase γ (POLG) contains within its coding region a CAG microsatellite encoding a...
The human nuclear gene for the catalytic subunit of mitochondrial DNA polymerase gamma (POLG) contains within its coding region a CAG microsatellite encoding a...
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StartPage 492
SubjectTerms 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
Title A prevalent POLG CAG microsatellite length allele in humans and African great apes
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