ArticleAmerican journal of human genetics2002
Evolutionary fate of an unstable human minisatellite deduced from sperm-mutation spectra of individual alleles.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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2 citing papers in PubMed.
- Response to: DNA identification by pedigree likelihood ratio accommodating population substructure and mutations.Investigative genetics · 2011Article
- Response to: DNA identification by pedigree likelihood ratio accommodating population substructure and mutations- authors' reply.Investigative genetics · 2011Article
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3 authors.
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Abstract
Although mutation processes at some human minisatellites have been extensively characterized, the evolutionary fate of these unstable loci is unknown. Minisatellite instability is largely germline specific, with mutation rates up to several percent and with expansion events predominating over contractions. Using allele-specific small-pool polymerase chain reaction, we have determined sperm-mutation spectra of individual alleles of the highly unstable human minisatellite CEB1 (i.e., D2S90). We show that, as allele size increases, the proportion of contractions rises from <5% to 50%, with the average size of deletion increasing and eventually exceeding the average size of expansion. The expected net effect of these trends after many generations is an equilibrium distribution of allele sizes, and allele-frequency data suggest that this equilibrium state has been reached in some contemporary human populations.
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