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

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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. © 2009 Järve et al.

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Järve, M., Zhivotovsky, L. A., Rootsi, S., Help, H., Rogaev, E. I., Khusnutdinova, E. K., … Sanchez, J. J. (2009). Decreased rate of evolution in Y chromosome STR loci of increased size of the repeat unit. PLoS ONE, 4(9). https://doi.org/10.1371/journal.pone.0007276

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