Campbell Christopher L, Furlotte Nicholas A, Eriksson Nick, Hinds David, Auton Adam
Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.
23andMe Inc., Mountain View, California 94043, USA.
Nat Commun. 2015 Feb 19;6:6260. doi: 10.1038/ncomms7260.
Recombination plays a fundamental role in meiosis, ensuring the proper segregation of chromosomes and contributing to genetic diversity by generating novel combinations of alleles. Here, we use data derived from direct-to-consumer genetic testing to investigate patterns of recombination in over 4,200 families. Our analysis reveals a number of sex differences in the distribution of recombination. We find the fraction of male events occurring within hotspots to be 4.6% higher than for females. We confirm that the recombination rate increases with maternal age, while hotspot usage decreases, with no such effects observed in males. Finally, we show that the placement of female recombination events appears to become increasingly deregulated with maternal age, with an increasing fraction of events observed within closer proximity to each other than would be expected under simple models of crossover interference.
重组在减数分裂中起着根本性作用,确保染色体的正确分离,并通过产生新的等位基因组合促进遗传多样性。在此,我们使用来自直接面向消费者的基因检测数据,研究了4200多个家庭中的重组模式。我们的分析揭示了重组分布中的一些性别差异。我们发现男性在热点区域发生的事件比例比女性高4.6%。我们证实重组率随母亲年龄增加而升高,而热点区域的使用则减少,在男性中未观察到此类影响。最后,我们表明,随着母亲年龄的增长,女性重组事件的位置似乎越来越不受调控,与简单的交叉干扰模型预期相比,彼此更接近的事件比例越来越高。