Ruiz-Herrera Aurora, Vozdova Miluse, Fernández Jonathan, Sebestova Hana, Capilla Laia, Frohlich Jan, Vara Covadonga, Hernández-Marsal Adrià, Sipek Jaroslav, Robinson Terence J, Rubes Jiri
Genome Integrity and Instability Group, Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Barcelona, Spain.
Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
Chromosoma. 2017 Oct;126(5):615-631. doi: 10.1007/s00412-016-0624-3. Epub 2017 Jan 18.
Homologous chromosomes exchange genetic information through recombination during meiosis, a process that increases genetic diversity, and is fundamental to sexual reproduction. In an attempt to shed light on the dynamics of mammalian recombination and its implications for genome organization, we have studied the recombination characteristics of 112 individuals belonging to 28 different species in the family Bovidae. In particular, we analyzed the distribution of RAD51 and MLH1 foci during the meiotic prophase I that serve, respectively, as proxies for double-strand breaks (DSBs) which form in early stages of meiosis and for crossovers. In addition, synaptonemal complex length and meiotic DNA loop size were estimated to explore how genome organization determines DSBs and crossover patterns. We show that although the number of meiotic DSBs per cell and recombination rates observed vary between individuals of the same species, these are correlated with diploid number as well as with synaptonemal complex and DNA loop sizes. Our results illustrate that genome packaging, DSB frequencies, and crossover rates tend to be correlated, while meiotic chromosomal axis length and DNA loop size are inversely correlated in mammals. Moreover, axis length, DSB frequency, and crossover frequencies all covary, suggesting that these correlations are established in the early stages of meiosis.
在减数分裂过程中,同源染色体通过重组交换遗传信息,这一过程增加了遗传多样性,是有性生殖的基础。为了阐明哺乳动物重组的动力学及其对基因组组织的影响,我们研究了牛科28个不同物种的112个个体的重组特征。特别是,我们分析了减数分裂前期I中RAD51和MLH1焦点的分布,它们分别作为减数分裂早期形成的双链断裂(DSB)和交叉的代理。此外,估计了联会复合体长度和减数分裂DNA环大小,以探讨基因组组织如何决定DSB和交叉模式。我们表明,尽管每个细胞中减数分裂DSB的数量和观察到的重组率在同一物种的个体之间有所不同,但这些与二倍体数量以及联会复合体和DNA环大小相关。我们的结果表明,基因组包装、DSB频率和交叉率往往相关,而在哺乳动物中,减数分裂染色体轴长度和DNA环大小呈负相关。此外,轴长度、DSB频率和交叉频率都共同变化,表明这些相关性在减数分裂早期就已建立。