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Decreased rate of evolution in Y chromosome STR loci of increased size of the repeat unit.


ABSTRACT: BACKGROUND: Polymorphic Y chromosome short tandem repeats (STRs) have been widely used in population genetic and evolutionary studies. Compared to di-, tri-, and tetranucleotide repeats, STRs with longer repeat units occur more rarely and are far less commonly used. PRINCIPAL FINDINGS: In order to study the evolutionary dynamics of STRs according to repeat unit size, we analysed variation at 24 Y chromosome repeat loci: 1 tri-, 14 tetra-, 7 penta-, and 2 hexanucleotide loci. According to our results, penta- and hexanucleotide repeats have approximately two times lower repeat variance and diversity than tri- and tetranucleotide repeats, indicating that their mutation rate is about half of that of tri- and tetranucleotide repeats. Thus, STR markers with longer repeat units are more robust in distinguishing Y chromosome haplogroups and, in some cases, phylogenetic splits within established haplogroups. CONCLUSIONS: Our findings suggest that Y chromosome STRs of increased repeat unit size have a lower rate of evolution, which has significant relevance in population genetic and evolutionary studies.

SUBMITTER: Jarve M 

PROVIDER: S-EPMC2748704 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Decreased rate of evolution in Y chromosome STR loci of increased size of the repeat unit.

Järve Mari M   Zhivotovsky Lev A LA   Rootsi Siiri S   Help Hela H   Rogaev Evgeny I EI   Khusnutdinova Elza K EK   Kivisild Toomas T   Sanchez Juan J JJ  

PloS one 20090930 9


<h4>Background</h4>Polymorphic Y chromosome short tandem repeats (STRs) have been widely used in population genetic and evolutionary studies. Compared to di-, tri-, and tetranucleotide repeats, STRs with longer repeat units occur more rarely and are far less commonly used.<h4>Principal findings</h4>In order to study the evolutionary dynamics of STRs according to repeat unit size, we analysed variation at 24 Y chromosome repeat loci: 1 tri-, 14 tetra-, 7 penta-, and 2 hexanucleotide loci. Accordi  ...[more]

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