Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers

Short tandem repeat polymorphisms on the male‐specific part of the human Y‐chromosome (Y‐STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10−3 mutations per marker per meiosis) allow detecting paternal relationships, they typi...

Full description

Saved in:

Bibliographic Details
Published in:	Human mutation Vol. 41; no. 9; pp. 1680 - 1696
Main Authors:	Ralf, Arwin, Lubach, Delano, Kousouri, Nefeli, Winkler, Christian, Schulz, Iris, Roewer, Lutz, Purps, Josephine, Lessig, Rüdiger, Krajewski, Pawel, Ploski, Rafal, Dobosz, Tadeusz, Henke, Lotte, Henke, Jürgen, Larmuseau, Maarten H. D., Kayser, Manfred
Format:	Journal Article
Language:	English
Published:	United States Hindawi Limited 01-09-2020
Subjects:	forensic genetics genetic genealogy genetic identification Genotyping Heredity male relative differentiation Meiosis Mutation Mutation rates rapidly mutating Y‐STRs Short tandem repeats Y‐STRs genetic genealogy rapidly mutating Y-STRs mutation rates male relative differentiation Y-STRs genetic identification forensic genetics
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Short tandem repeat polymorphisms on the male‐specific part of the human Y‐chromosome (Y‐STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10−3 mutations per marker per meiosis) allow detecting paternal relationships, they typically fail to separate male relatives. Previously, we identified 13 Y‐STR markers with untypically high mutation rates (>10−2), termed rapidly mutating (RM) Y‐STRs, and showed that they improved male relative differentiation over standard Y‐STRs. By applying a newly developed in silico search approach to the Y‐chromosome reference sequence, we identified 27 novel RM Y‐STR candidates. Genotyping them in 1,616 DNA‐confirmed father–son pairs for mutation rate estimation empirically highlighted 12 novel RM Y‐STRs. Their capacity to differentiate males related by 1, 2, and 3 meioses was 27%, 47%, and 61%, respectively, while for all 25 currently known RM Y‐STRs, it was 44%, 69%, and 83%. Of the 647 Y‐STR mutations observed in total, almost all were single repeat changes, repeat gains, and losses were well balanced; allele length and fathers' age were positively correlated with mutation rate. We expect these new RM Y‐STRs, together with the previously known ones, to significantly improving male relative differentiation in future human genetic applications.
Bibliography:	Now retired Lotte Henke & Jürgen Henke ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1059-7794 1098-1004
DOI:	10.1002/humu.24068