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Mutation Rate Varies among Alleles at a Microsatellite Locus: Phylogenetic Evidence
Li Jin, Claudia Macaubas, Joachim Hallmayer, Akinori Kimura and Emmanuel Mignot
Proceedings of the National Academy of Sciences of the United States of America
Vol. 93, No. 26 (Dec. 24, 1996), pp. 15285-15288
Published by: National Academy of Sciences
Stable URL: http://www.jstor.org/stable/40868
Page Count: 4
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The understanding of the mutational mechanism that generates high levels of variation at microsatellite loci lags for behind the application of these genetic markers. A phylogenetic approach was developed to study the pattern and rate of mutations at a dinucleotide microsatellite locus tightly linked to HLA-DQB1 (DQCAR). A random Japanese population (n = 129) and a collection of multiethnic samples (n = 941) were typed at the DQB1 and DQCAR loci. The phylogeny of DQB1 alleles was then reconstructed and DQCAR alleles were superimposed onto the phylogeny. This approach allowed us to group DQCAR alleles that share a common ancestor. The results indicated that the DQCAR mutation rate varies drastically among alleles within this single microsatellite locus. Some DQCAR alleles never mutated during a long period of evolutionary time. Sequencing of representative DQCAR alleles showed that these alleles lost their ability to mutate because of nucleotide substitutions that shorten the length of uninterrupted CA repeat arrays; in contrast, all mutating alleles had relatively longer perfect CA repeat sequences.
Proceedings of the National Academy of Sciences of the United States of America © 1996 National Academy of Sciences