Inferring population structure and demographic history using Y-STR data from worldwide populations

Abstract

The Y chromosome is one of the best genetic materials to explore the evolutionary history of human populations. Global analyses of Y chromosomal short tandem repeats (STRs) data can reveal very interesting world population structures and histories. However, previous Y-STR works tended to focus on small geographical ranges or only included limited sample sizes. In this study, we have investigated population structure and demographic history using 17 Y chromosomal STRs data of 979 males from 44 worldwide populations. The largest genetic distances have been observed between pairs of African and non-African populations. American populations with the lowest genetic diversities also showed large genetic distances and coancestry coefficients with other populations, whereas Eurasian populations displayed close genetic affinities. African populations tend to have the oldest time to the most recent common ancestors (TMRCAs), the largest effective population sizes and the earliest expansion times, whereas the American, Siberian, Melanesian, and isolated Atayal populations have the most recent TMRCAs and expansion times, and the smallest effective population sizes. This clear geographic pattern is well consistent with serial founder model for the origin of populations outside Africa. The Y-STR dataset presented here provides the most detailed view of worldwide population structure and human male demographic history, and additionally will be of great benefit to future forensic applications and population genetic studies.

Analysis of 17 Y‐STR loci haplotype and Y‐chromosome haplogroup distribution in five Chinese ethnic groups

“…Since Y‐STR typing is more widely used than Y‐SNP in forensic casework, it seems workable and convenient to use Y‐STR haplotype to predict the most likely haplogroup thus referring the geographic or ethnic origin of unknown samples. But we should notice that the occurrence of errors in Y‐chromosome haplogroup prediction still exist, suggesting that the validation using SNP analysis is appropriate when high accuracy is required .…”

Phylogenetic analysis and forensic characteristics of 12 populations using 23 Y-STR loci

“…For example, the Atayal appeared to have a remote relationship with the other populations on the basis of our results. Previous population genetic analyses consistently revealed similar genetic variations, which may result from numerous factors, such as socio-cultural characteristics (i.e., endogamy, language barriers), and the emergence of a high aggregation of specific haplotype [7,10].…”

“…Compared with the 17 Y-STRs commonly used by the forensic community, a larger number of haplotypes and a fewer number of interpopulations shared haplotypes were defined by the new generation multiplex Y-STR system [4,7]. The analysis of full 23 Y-STR not only contributed to the forensic Y haplotype database, but it also benefitted population studies due to its greater resolution.…”

Ancestry Testing and the Practice of Genetic Counseling

“…To understand these aspects of ancestry testing, it is important to understand the major scientific fields involved in the foundation of the testing: molecular anthropology, population genetics, and genetic epidemiology. Scientific publications in all of these fields have enabled the growth of understanding about the value of DNA studies in understanding human history (Brown and Pasaniuc 2014; Kumagai and Uyenoyama 2015;Larmuseau et al 2013;Ma and Amos 2012;Ralph and Coop 2013;Shriner et al 2014;Tofanelli et al 2014;Wang and Li 2013;van Oven et al 2014;Zhang et al 2013;Xu et al 2015) Molecular anthropology is a field of evolutionary biology investigating the links between modern and ancient humans, and between contemporary groups (Destro-Bisol et al 2010). In this area of anthropology, DNA and protein sequences are analyzed at the molecular level, and inferences can be made about the relationship and history of evolution between groups.…”