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HFM1、MLH3、MSH4、MSH5、RNF212和RNF212B中的编码和非编码变异影响牛的重组率。

Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle.

作者信息

Kadri Naveen Kumar, Harland Chad, Faux Pierre, Cambisano Nadine, Karim Latifa, Coppieters Wouter, Fritz Sébastien, Mullaart Erik, Baurain Denis, Boichard Didier, Spelman Richard, Charlier Carole, Georges Michel, Druet Tom

机构信息

Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), 4000 Liège, Belgium.

Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), 4000 Liège, Belgium; Livestock Improvement Corporation, Newstead, 3240 Hamilton, New Zealand.

出版信息

Genome Res. 2016 Oct;26(10):1323-1332. doi: 10.1101/gr.204214.116. Epub 2016 Aug 11.

DOI:10.1101/gr.204214.116
PMID:27516620
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5052053/
Abstract

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.

摘要

我们在此研究了来自法国、新西兰和荷兰的三个牛群中的基因重组情况。我们在94,516个雄配子中鉴定出2,395,177次交叉（CO）事件，在25,332个雌配子中鉴定出579,996次CO事件。结果发现，雄配子中CO的平均数量（23.3）多于雌配子（21.4）。全局重组率（GRR）的遗传力在雄性中估计为0.13，在雌性中为0.08，遗传相关性为0.66，表明共享变异正在影响两性的GRR。一项全基因组关联研究确定了七个GRR的数量性状位点（QTL）。对14,401只动物进行基于序列的插补后的精细定位，确定了5/7个QTL中已知参与减数分裂重组的基因（HFM1、MSH4、RNF212、MLH3、MSH5）中可能的致病编码（5个）和非编码（1个）变异，以及1/7个QTL中RNF212B的非编码变异（3个）。这表明这个RNF212旁系同源基因可能也参与重组。大多数已鉴定的突变对两性都有显著影响，其中三个突变在雄性中各自占遗传方差的约10%。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/6eebf2dbcedd/1323f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/cd0b2f05e79f/1323f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/f248f4535ddd/1323f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/ecfa3f0ea7ef/1323f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/6eebf2dbcedd/1323f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/cd0b2f05e79f/1323f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/f248f4535ddd/1323f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/ecfa3f0ea7ef/1323f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8731/5052053/6eebf2dbcedd/1323f04.jpg

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