Coding and non-coding variants in HFM1, MLH3, MSH4, MSH5, RNF212 and RNF212B affect recombination rate in cattle

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 CO 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 genders. A genome-wide association study identified seven QTL for GRR. Fine-mapping following sequence-based imputation in 14,401 animals, pinpointed likely causative coding (5) and non-coding (1) variants in genes known to be involved in meiotic recombination (HFM1, MSH4, RNF212, MLH3, MSH5) for 5/7 QTL, and non-coding variants (3) in RNF212B for 1/7 QTL. This suggests that this RNF212 paralogue might also be involved in recombination. Most of the identified mutations had significant effects in both genders with three of them each accounting for approximately 10% of the genetic variance in males.

  • Received January 11, 2016.
  • Accepted August 10, 2016.

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  1. Genome Res. gr.204214.116 Published by Cold Spring Harbor Laboratory Press

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