A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations

S. A. Tishkoff, A. Goldman, F. Calafell, W. C. Speed, A. S. Deinard, B. Bonne-Tamir, J. R. Kidd, A. J. Pakstis, T. Jenkins, K. K. Kidd*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Haplotypes consisting of the (CTG)(n) repeat, as well as several flanking markers at the myotonic dystrophy (DM) locus, were analyzed in normal individuals from 25 human populations (5 African, 2 Middle Eastern, 3 European, 6 East Asian, 3 Pacific/Australo-Melanesian, and 6 Amerindian) and in five nonhuman primate species. Non-African populations have a subset of the haplotype diversity present in Africa, as well as a shared pattern of allelic association. (CTG)18-35 alleles (large normal) were observed only in northeastern African and non-African populations and exhibit strong linkage disequilibrium with three markers flanking the (CTG)(n) repeat. The pattern of haplotype diversity and linkage disequilibrium observed supports a recent African-origin model of modern human evolution and suggests that the original mutation event that gave rise to DM-causing alleles arose in a population ancestral to non-Africans prior to migration of modern humans out of Africa.

Original languageEnglish
Pages (from-to)1389-1402
Number of pages14
JournalAmerican Journal of Human Genetics
Volume62
Issue number6
DOIs
StatePublished - Jun 1998

Funding

FundersFunder number
Catalonia, SpainAA09379
National Science FoundationSBR9632509
National Institute of Mental HealthR37MH039239
Alfred P. Sloan Foundation
U.S. Public Health ServiceMH50390
South African Medical Research Council
Comissió Interdepartamental de Recerca i Innovació Tecnològica

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