Abstract
We analyzed 67 short tandem repeat polymorphisms from the non-recombining part of
the Y-chromosome (Y-STRs), including 49 rarely studied simple single-copy (ss)Y-STRs
and 18 widely used Y-STRs, in 590 males from 51 populations belonging to 8 worldwide
regions (HGDP-CEPH panel). Although autosomal DNA profiling provided no evidence for
close relationship, we found 18 Y-STR haplotypes (defined by 67 Y-STRs) that were
shared by two to five men in 13 worldwide populations, revealing high and widespread
levels of cryptic male relatedness. Maximal (95.9%) haplotype resolution was achieved
with the best 25 out of 67 Y-STRs in the global dataset, and with the best 3–16 markers
in regional datasets (89.6–100% resolution). From the 49 rarely studied ssY-STRs,
the 25 most informative markers were sufficient to reach the highest possible male
lineage differentiation in the global (92.2% resolution), and 3–15 markers in the
regional datasets (85.4–100%). Considerably lower haplotype resolutions were obtained
with the three commonly used Y-STR sets (Minimal Haplotype, PowerPlex Y®, and AmpFlSTR® Yfiler®). Six ssY-STRs (DYS481, DYS533, DYS549, DYS570, DYS576 and DYS643) were most informative
to supplement the existing Y-STR kits for increasing haplotype resolution, or – together
with additional ssY-STRs – as a new set for maximizing male lineage differentiation.
Mutation rates of the 49 ssY-STRs were estimated from 403 meiotic transfers in deep-rooted
pedigrees, and ranged from ∼4.8 × 10−4 for 31 ssY-STRs with no mutations observed to 1.3 × 10−2 and 1.5 × 10−2 for DYS570 and DYS576, respectively, the latter representing the highest mutation
rates reported for human Y-STRs so far. Our findings thus demonstrate that ssY-STRs
are useful for maximizing global and regional resolution of male lineages, either
as a new set, or when added to commonly used Y-STR sets, and support their application
to forensic, genealogical and anthropological studies.
Keywords
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Article info
Publication history
Published online: February 24, 2009
Accepted:
January 17,
2009
Received in revised form:
January 7,
2009
Received:
November 13,
2008
Identification
Copyright
© 2009 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
