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Y-chromosome DNA for male identification

The human Y chromosome, due to its presence in males only and its mostly paternal inheritance, offers interesting applications in various fields such as human evolution, population history, forensics, and genealogy. In forensics, targeting male-specific DNA is of benefit in cases of sexual assault, where autosomal DNA profiling typically fails to identify the male contributor. Our early work had resulted in the introduction and further development of Y-chromosomal DNA-analysis to forensics and anthropology, where it currently is in widespread use. Besides developing genetic tools for Y-chromosome applications in various fields, our research into the mutability of Y-chromosome DNA allows a better understanding of the causes of Y-chromosome diversity and allows improving Y-DNA applications. For instance, our identification and further development of rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) markers and tools to analyse them has revolutionized forensic Y-DNA applications, as for the first time it allows to differentiate paternally related males, who typically are identical at conventionally used Y-STRs. We also use Y-chromosome diversity for understanding human origin and population history as well as for determining the paternal side of a person’s bio-geographic ancestry (see genetic population structure).

Selected relevant publications (last 5 years only):

Alghafri et al. A novel multiplex assay for simultaneously analysing 13 rapidly mutating Y-STRs. Forensic Sci Int Genet. 2015 17: 91-8. [PubMed: 25884342]

Robino et al. Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise. Forensic Sci Int Genet. 2015 15: 56-63. [PubMed: 25457630]

Ralf et al. Simultaneous analysis of hundreds of Y-chromosomal SNPs for high-resolution paternal lineage classification using targeted semiconductor sequencing. Hum Mutat. 2015 36: 151-9. [PubMed: 25338970]

Ballantyne et al. Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Hum Mutat. 2014 35: 1021-32. [PubMed: 24917567]

van Oven et al. Multiplex genotyping assays for fine-resolution subtyping of the major human Y-chromosome haplogroups E, G, I, J, and R in anthropological, genealogical, and forensic investigations. Electrophoresis 2013 34: 3029-38. [PubMed: 23893838]

van Oven et al. A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia. J Hum Genet. 2012 57: 65-9. [PubMed: 22048658]

Ballantyne et al. A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet. 2012 6: 208-18. [PubMed: 21612995]

van Oven et al. A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia. J Hum Genet. 2012 57: 65-9. [PubMed: 22048658]

van Oven et al. An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups. Int J Legal Med. 2011 125: 879-85. [PubMed: 21785904]

Kayser, M., de Knijff, P. Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet. 2011 12: 179-92. [PubMed: 21331090]

Ballantyne et al. Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet. 2010 87: 341-53. [PubMed: 20817138]