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Type: Journal article
Title: Dynamic mutation loci: Allele distributions in different populations
Author: Richards, R.
Crawford, J.
Narahara, K.
Mangelsdorf, M.
Friend, K.
Staples, A.
Denton, M.
Easteal, S.
Hori, T.
Kondo, I.
Jenkins, T.
Goldman, A.
Panich, V.
Ferakova, E.
Sutherland, G.
Citation: Annals of Human Genetics, 1996; 60(5):391-400
Publisher: CAMBRIDGE UNIV PRESS
Issue Date: 1996
ISSN: 0003-4800
1469-1809
Statement of
Responsibility: 
R. I. Richards, J. Crawford, K. Narahara, M. Mangelsdorf, K. Friend, A. Staples, M. Denton, S. Easteal, T.-A. Hori, I. Kondo, T. Jenkins, A. Goldman, V. Panich, E. Ferakova and G. R. Sutherland
Abstract: To assess the relative contributions of trans-acting factors (replication and repair functions) and cis-acting elements (repeat and flanking DNA composition) to the mechanism of trinucleotide repeat sequence mutation we have analysed the distribution of copy number polymorphisms at 12 loci associated with dynamic mutations in 15 populations of different ethnic origins. Genome wide instability of repeats in a particular population would be evidence of trans-acting factor instigation of the mutation process, whereas instability at a particular locus (perhaps even in several populations) would be evidence that the composition of the particular locus was the most significant factor contributing to mutation. The FRA16A locus is highly polymorphic in only the European population. Some other loci exhibit distinct distributions of alleles between different populations. Therefore sequences in the vicinity of the repeat - the cis component of a particular locus - appear(s) to be more important in the mutation mechanism than sporadic genome-wide instability induced by trans-acting factors such as the DNA mismatch repair enzymes.
Keywords: X Chromosome; Humans; Machado-Joseph Disease; Chromosome Fragility; Nerve Tissue Proteins; Nuclear Proteins; Mutagenesis; Trinucleotide Repeats; Gene Frequency; Heterozygote; Polymorphism, Genetic; Alleles; Ethnic Groups; Genetic Linkage; Ataxin-1; Ataxins
Description: Article first published online: 28 SEP 2007
Rights: Copyright status unknown
RMID: 0030005761
DOI: 10.1111/j.1469-1809.1996.tb00437.x
Appears in Collections:Paediatrics publications

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