Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2004-6-7
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0938-8990
pubmed:author
pubmed-author:AbelJosefJ, pubmed-author:AholaArja LAL, pubmed-author:AndresAida MAM, pubmed-author:BertranpetitJaumeJ, pubmed-author:BlancherAntoineA, pubmed-author:BontropRonald ERE, pubmed-author:ChemnickLeona GLG, pubmed-author:CookeHoward JHJ, pubmed-author:CumminsJames MJM, pubmed-author:DavisHeidi AHA, pubmed-author:ElliottDavid JDJ, pubmed-author:FritscheEllenE, pubmed-author:HargreaveTimothy BTB, pubmed-author:HoffmanSusan M GSM, pubmed-author:JacobsHoward THT, pubmed-author:JequierAnne MAM, pubmed-author:KaoShu-HueiSH, pubmed-author:KimHeui-SooHS, pubmed-author:MarchingtonDavid RDR, pubmed-author:MehmetDeniseD, pubmed-author:OttingNelN, pubmed-author:PoultonJoannaJ, pubmed-author:RovioAnja TAT, pubmed-author:RyderOliver AOA, pubmed-author:SchuppeHans-ChristianHC, pubmed-author:TakenakaOsamuO, pubmed-author:WeiYau-HueiYH, pubmed-author:WichmannLarsL
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
492-502
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
A prevalent POLG CAG microsatellite length allele in humans and African great apes.
pubmed:affiliation
Institute of Medical Technology and Tampere University Hospital, University of Tampere, FIN-33014, Finland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't