4 research outputs found
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 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 o
Correction to: The Dutch Y-chromosomal landscape (European Journal of Human Genetics, (2019), 10.1038/s41431-019-0496-0)
Due to a misunderstanding between the authors, Dr. Lao’s present address was incomplete when the paper was published. The correct present address should read: CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, and Universitat Pompeu Fabra (UPF), Barcelona, Spain
Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysi