Microsatellite mutations and inferences about human demography.

Abstract:

:Microsatellites have been widely used as tools for population studies. However, inference about population processes relies on the specification of mutation parameters that are largely unknown and likely to differ across loci. Here, we use data on somatic mutations to investigate the mutation process at 14 tetranucleotide repeats and carry out an advanced multilocus analysis of different demographic scenarios on worldwide population samples. We use a method based on less restrictive assumptions about the mutation process, which is more powerful to detect departures from the null hypothesis of constant population size than other methods previously applied to similar data sets. We detect a signal of population expansion in all samples examined, except for one African sample. As part of this analysis, we identify an "anomalous" locus whose extreme pattern of variation cannot be explained by variability in mutation size. Exaggerated mutation rate is proposed as a possible cause for its unusual variation pattern. We evaluate the effect of using it to infer population histories and show that inferences about demographic histories are markedly affected by its inclusion. In fact, exclusion of the anomalous locus reduces interlocus variability of statistics summarizing population variation and strengthens the evidence in favor of demographic growth.

journal_name

Genetics

journal_title

Genetics

authors

Gonser R,Donnelly P,Nicholson G,Di Rienzo A

keywords:

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

1793-807

issue

4

eissn

0016-6731

issn

1943-2631

journal_volume

154

pub_type

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