Phylogenetic resolution of complex mutational features at Y-STR DYS390 in aboriginal Australians and Papuans |
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Authors: | Forster P; Kayser M; Meyer E; Roewer L; Pfeiffer H; Benkmann H; Brinkmann B |
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Institution: | Institute of Legal Medicine, University of Munster, Germany. |
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Abstract: | Y-chromosomal short tandem repeats (STRs) are used for the study of male
aspects of human evolution as well as for forensic applications and
paternity testing. Both applications require an understanding of the
underlying mutational mechanisms that create variability. We describe
complex mutations at the substructured DYS390 STR locus in 97 natives of
the New Guinea/Australian region. Sequencing of short alleles in these
populations indicates multirepeat deletions. All samples are further
characterized using the five additional Y-STR loci DYS19, DXYS156-Y,
DYS391, DYS392, and DYS393. Phylogenetic analysis of the resulting
haplotypes yields ethnically specific clusters predating the settlement of
Australia and Papua New Guinea (although archaic Homo sapiens or Homo
erectus lineages are absent). The phylogeny confirms that DYS390 violates
the stepwise mutation model and demonstrates that the DYS390 locus mutates
relatively rapidly and retains its variability after structural change.
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