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, Amos S Deinard, B. Bonne-Tamir, J. R. Kidd, A. J. Pakstis, T. Jenkins, K. K. Kidd

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

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    Tishkoff, S. A., Goldman, A., Calafell, F., Speed, W. C., Deinard, A. S., Bonne-Tamir, B., Kidd, J. R., Pakstis, A. J., Jenkins, T., & Kidd, K. K. (1998). A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. American Journal of Human Genetics, 62(6), 1389-1402. https://doi.org/10.1086/301861