Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle.
Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle.
复制标题
DOI：
10.1101/gr.204214.116
复制
发表时间：
2016-10
期刊：
影响因子：
7
通讯作者：
Druet T
中科院分区：
文献类型：
--
作者：
Kadri NK;Harland C;Faux P;Cambisano N;Karim L;Coppieters W;Fritz S;Mullaart E;Baurain D;Boichard D;Spelman R;Charlier C;Georges M;Druet T
我们在此研究来自法国，新西兰和荷兰的三个牛种群的遗传重组。我们在94，516个雄性配子中识别出2，395，177个交叉（CO）事件，在25，332个雌性配子中识别出579，996个CO事件。男性的CO平均数（23.3）大于女性（21.4）。总体重组率（GRR）的遗传力估计为0.13男性和0.08女性，遗传相关系数为0.66，表明共享的变异影响GRR在两种性别。一个全基因组关联研究确定了7个数量性状位点（QTL）的GRR。在14，401只动物中进行基于序列的插补后的精细定位，确定了已知参与减数分裂重组的基因（HFM 1，MSH 4，RNF 212，MLH 3，MSH 5）中5/7 QTL的可能致病编码（5）和非编码（1）变体，以及RNF 212 B中1/7 QTL的非编码变体（3）。这表明RNF 212蛋白也可能参与重组。大多数已鉴定的突变对两性都有显著影响，其中三个突变各占男性遗传变异的10%。
We herein study genetic recombination in three cattle populations from France, New Zealand, and the Netherlands. We identify 2,395,177 crossover (CO) events in 94,516 male gametes, and 579,996 CO events in 25,332 female gametes. The average number of COs was found to be larger in males (23.3) than in females (21.4). The heritability of global recombination rate (GRR) was estimated at 0.13 in males and 0.08 in females, with a genetic correlation of 0.66 indicating that shared variants are influencing GRR in both sexes. A genome-wide association study identified seven quantitative trait loci (QTL) for GRR. Fine-mapping following sequence-based imputation in 14,401 animals pinpointed likely causative coding (5) and noncoding (1) variants in genes known to be involved in meiotic recombination (HFM1, MSH4, RNF212, MLH3, MSH5) for 5/7 QTL, and noncoding variants (3) in RNF212B for 1/7 QTL. This suggests that this RNF212 paralog might also be involved in recombination. Most of the identified mutations had significant effects in both sexes, with three of them each accounting for ∼10% of the genetic variance in males.