| Title: |
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers |
| Authors: |
Ralf, Arwin; Lubach, Delano; Kousouri, Nefeli; Winkler, Christian; Schulz, Iris; Roewer, Lutz; Purps, Josephine; Lessig, Ruediger; Krajewski, Pawel; Ploski, Rafal; Dobosz, Tadeusz; Henke, Lotte; Henke, Juergen; Larmuseau, Maarten H.D.; Kayser, Manfred |
| Source: |
ISSN:1059-7794 ; ISSN:1098-1004 ; Human Mutation, vol. 41 (9), (1680-1696. |
| Publisher Information: |
Wiley |
| Publication Year: |
2020 |
| Subject Terms: |
Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; forensic genetics; genetic genealogy; genetic identification; male relative differentiation; mutation rates; rapidly mutating Y-STRs; Y-STRs; STR LOCI; DNA; MICROSATELLITE; POPULATION; SEQUENCE; FATHERS; RATES; AGE; Alleles; Chromosomes; Human; Genetic Markers; Genotype; Humans; Male; Microsatellite Repeats; Mutation Rate; 0604 Genetics; 1103 Clinical Sciences |
| Description: |
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. ; sponsorship: Erasmus MC University Medical Center Rotterdam (Erasmus MC University Medical Center Rotterdam) ; status: Published |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/octet-stream |
| Language: |
English |
| Relation: |
https://lirias.kuleuven.be/handle/123456789/671053; https://doi.org/10.1002/humu.24068; https://pubmed.ncbi.nlm.nih.gov/32579758 |
| DOI: |
10.1002/humu.24068 |
| Availability: |
https://lirias.kuleuven.be/handle/123456789/671053; https://lirias.kuleuven.be/retrieve/3dfdd2d8-56eb-4b3e-ab92-cafe178062a5; https://doi.org/10.1002/humu.24068; https://pubmed.ncbi.nlm.nih.gov/32579758 |
| Rights: |
info:eu-repo/semantics/openAccess ; public ; All rights reserved |
| Accession Number: |
edsbas.8B09BAE6 |
| Database: |
BASE |