Mutation patterns at dinucleotide microsatellite loci in humans

Qing Yang Huang, Fu Hua Xu, Hui Shen, Hong Yi Deng, Yong Jun Liu, Yao Zhong Liu, Jin Long Li, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

118 Scopus citations

Abstract

Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multi-generational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. A size-dependent mutation bias (in which long alleles are biased toward contraction, whereas short alleles are biased toward expansion) is observed. There is a statistically significant negative relationship between the magnitude (repeat numbers changed during mutation) and direction (contraction or expansion) of mutations and standardized allele size. Contrasting with earlier findings in humans, most mutation events (63%) in our study are multistep events that involve changes of more than one repeat unit. There was no correlation between mutation rate and recombination rate. Our data indicate that mutational dynamics at microsatellite loci are more complicated than the generalized stepwise mutation models.

Original languageEnglish (US)
Pages (from-to)625-634
Number of pages10
JournalAmerican journal of human genetics
Volume70
Issue number3
DOIs
StatePublished - Jan 1 2002

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Huang, Q. Y., Xu, F. H., Shen, H., Deng, H. Y., Liu, Y. J., Liu, Y. Z., Li, J. L., Recker, R. R., & Deng, H. W. (2002). Mutation patterns at dinucleotide microsatellite loci in humans. American journal of human genetics, 70(3), 625-634. https://doi.org/10.1086/338997