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

<b>Context:</b> 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. <b>Objective:</b> 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. <b>Methods:</b> A systematic literature search on Y-chromosomal studies in the Mediterranean was performed. <b>Results:</b> Several applications of Y-chromosomal analysis with future opportunities are formulated and illustrated with studies on Mediterranean populations. <b>Conclusions:</b> 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.

<b>研究背景：</b> 二十余年来，Y染色体（Y-chromosome）凭借其独特的父系遗传特性，一直是群体遗传学界广泛使用的遗传标记。近年来，低成本全基因组分析技术的问世解锁了信息量丰富的常染色体基因组数据，为后基因组时代铺平了道路。这一进展似乎导致Y染色体变异研究的热度有所下降——这类研究仅能提供人类祖先的父系视角，且极易受遗传漂变与社会行为的影响。
<b>研究目标：</b> 针对本期地中海群体遗传学专题刊，本研究旨在证明，在后基因组时代以及古基因组数据呈指数级增长的当下，Y染色体仍能为相关研究提供重要见解。
<b>研究方法：</b> 针对地中海地区的Y染色体研究开展了系统性文献检索。
<b>研究结果：</b> 本文梳理并阐述了Y染色体分析的多项应用方向及其未来发展机遇，并结合地中海人群的相关研究实例进行说明。
<b>研究结论：</b> 从男性特异性人口学事件重构、古DNA应用、姓氏历史研究，到群体水平婚外父权率估算，Y染色体相关研究的关注度并未出现下降。此外，还需推动更多相关工作，收集用于法医学研究的Y染色体标记群体遗传数据，并将Y染色体数据纳入全基因组关联研究（Genome-Wide Association Study，GWAS）以及男性不育相关研究中。