冰岛 deCODE 基因公司 / 安进公司Kari Stefansson和Bjarni V. Halldorsson共同合作，近期取得重要工作进展。他们研究绘制了完整的人类重组图谱。相关研究成果2025年1月22日在线发表于《自然》杂志上。

据介绍，人类重组图谱是关联和连锁研究的宝贵资源，对于许多种群历史和自然选择的推断至关重要。现有的图谱仅基于交换（CO）重组绘制，由于检测困难，未包含更为常见的非交换（NCO）重组形式。

通过利用家族全基因组序列数据，研究人员估算了从亲代传递给子代的NCO数量，并绘制出涵盖NCO和CO的完整的性别特异性重组图谱。相较于父亲，母亲的NCO数量更少但长度更长，并且随着母亲年龄增长，卵母细胞会以非调控方式积累NCO。重组，主要是NCO，分别导致了父源和母源新生突变的1.8%（95%置信区间：1.3-2.3）和11.3%（95%置信区间：9.0-13.6），这可能是导致母源新生突变随母亲年龄增加的原因。在着丝粒区域，NCO比CO显著得多，这可能是为了避免可能导致非整倍体的大规模基因组变化。

总之，这一研究结果表明，NCO比CO更能凸显两性减数分裂过程的差异，其中母源NCO可能反映了从婴儿期到排卵期对卵母细胞的保护机制。

附：英文原文

Title: Complete human recombination maps

Author: Palsson, Gunnar, Hardarson, Marteinn T., Jonsson, Hakon, Steinthorsdottir, Valgerdur, Stefansson, Olafur A., Eggertsson, Hannes P., Gudjonsson, Sigurjon A., Olason, Pall I., Gylfason, Arnaldur, Masson, Gisli, Thorsteinsdottir, Unnur, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F., Halldorsson, Bjarni V., Stefansson, Kari

Issue&Volume: 2025-01-22

Abstract: Human recombination maps are a valuable resource for association and linkage studies and crucial for many inferences of population history and natural selection. Existing maps1,2,3,4,5 are based solely on cross-over (CO) recombination, omitting non-cross-overs (NCOs)—the more common form of recombination6—owing to the difficulty in detecting them. Using whole-genome sequence data in families, we estimate the number of NCOs transmitted from parent to offspring and derive complete, sex-specific recombination maps including both NCOs and COs. Mothers have fewer but longer NCOs than fathers, and oocytes accumulate NCOs in a non-regulated fashion with maternal age. Recombination, primarily NCO, is responsible for 1.8% (95% confidence interval: 1.3–2.3) and 11.3% (95% confidence interval: 9.0–13.6) of paternal and maternal de novo mutations, respectively, and may drive the increase in de novo mutations with maternal age. NCOs are substantially more prominent than COs in centromeres, possibly to avoid large-scale genomic changes that may cause aneuploidy. Our results demonstrate that NCOs highlight to a much greater extent than COs the differences in the meiotic process between the sexes, in which maternal NCOs may reflect the safeguarding of oocytes from infancy until ovulation.

DOI: 10.1038/s41586-024-08450-5

Source: https://www.nature.com/articles/s41586-024-08450-5