Mediterranean Y-chromosome 2.0—why the Y in the Mediterranean is still relevant in the postgenomic era

Abstract

Context: Due to its unique paternal inheritance, the Y-chromosome has been a highly popular marker among population geneticists for over two decades. Recently, the advent of cost-effective genome-wide methods has unlocked information-rich autosomal genomic data, paving the way to the postgenomic era. This seems to have announced the decreasing popularity of investigating Y-chromosome variation, which provides only the paternal perspective of human ancestries and is strongly influenced by genetic drift and social behaviour.

Objective: For this special issue on population genetics of the Mediterranean, the aim was to demonstrate that the Y-chromosome still provides important insights in the postgenomic era and in a time when ancient genomes are becoming exponentially available.

Methods: A systematic literature search on Y-chromosomal studies in the Mediterranean was performed.

Results: Several applications of Y-chromosomal analysis with future opportunities are formulated and illustrated with studies on Mediterranean populations.

Conclusions: There will be no reduced interest in Y-chromosomal studies going from reconstruction of male-specific demographic events to ancient DNA applications, surname history and population-wide estimations of extra-pair paternity rates. Moreover, more initiatives are required to collect population genetic data of Y-chromosomal markers for forensic research, and to include Y-chromosomal data in GWAS investigations and studies on male infertility.

Keywords:

• Y-chromosome
• Mediterranean
• population genetics
• forensics
• surnames
• extra-pair paternity

Acknowledgements

We thank Francesc Calafell for inspiring discussions and Kelly Nivelle for corrections on an earlier version of our manuscript. We thank Katie Dean for support in Python scripting for generation of Supplementary Table S2. MHDL is a postdoctoral fellow of the Fund for Scientific Research–Flanders (FWO-Vlaanderen). Funding was provided by KU Leuven (BOF-C1 grant C12/15/013) and the Fund for Scientific Research–Flanders (Research grant number 1503216N). CO is a postdoctoral fellow supported by the ‘Satsningsmiljø grant COMPI’ (Comparative Infection Biology) of the Department of Biosciences at the University of Oslo.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Additional information

Funding

Funding was provided by KU Leuven (BOF-C1 grant C12/15/013) and the Fund for Scientific Research–Flanders (Research grant number 1503216N).