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

<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>Princ...

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Main Authors: Mari Järve, Lev A Zhivotovsky, Siiri Rootsi, Hela Help, Evgeny I Rogaev, Elza K Khusnutdinova, Toomas Kivisild, Juan J Sanchez
Format: article
Language:EN
Published: Public Library of Science (PLoS) 2009
Subjects:
R
Q
Online Access:https://doaj.org/article/ca858e444cdb4a198f95618d1c3c3b47
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Summary:<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. 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.<h4>Conclusions</h4>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.