Fine mapping highlights ITGAL and MUS81 loss-of-function mutations modulating recessive impacts in dairy cattle

We recently described several major-effect recessive loci impacting anatomical and lactation traits in dairy cattle. Two of these loci in particular presented multiple candidate causative variants, comprising tightly linked coding variants that could not be easily differentiated on a statistical or functional basis. Here, we re-examine the candidacy of these variants by leveraging a dataset of 1 million genotyped animals. Assessing lactation and bodyweight effects in conjunction with rare, recombined genotypes for the IL4R, KIAA0556, ITGAL, DPF2, and MUS81 candidates, we highlight ITGAL and MUS81 as the most likely causative genes for the two QTL. Recombinant homozygotes for these genes present larger, more significant effects than other candidates at the same loci, with both representing premature stop mutations anticipated to inactivate ITGAL and MUS81. We further examined homozygotes for the ITGAL mutation to better understand the range of phenotypes impacted. While outwardly normal,..., The full methods can be found in the Supplementary Methods and Materials in the final published article, which is Open Access: https://doi.org/10.1111/age.70027
, , # Fine mapping highlights ITGAL and MUS81 loss-of-function mutations modulating recessive impacts in dairy cattle

Full author list: [Laura Duntsch](https://onlinelibrary.wiley.com/authored-by/Duntsch/Laura), [Swati Jivanji](https://onlinelibrary.wiley.com/authored-by/Jivanji/Swati), [Thomas Lopdell](https://onlinelibrary.wiley.com/authored-by/Lopdell/Thomas), [Edwardo G. M. Reynolds](https://onlinelibrary.wiley.com/authored-by/Reynolds/Edwardo+G.+M.), [Liam Williams](https://onlinelibrary.wiley.com/authored-by/Williams/Liam), [Mathew D. Littlejohn](https://onlinelibrary.wiley.com/authored-by/Littlejohn/Mathew+D.)

[https://doi.org/10.1111/age.70027](https://doi.org/10.1111/age.70027)

## Description of the data and file structure

Contact Information

Name: Laura Duntsch
Institution: Livestock Improvement Corporation, New Zealand
Email: [e-mail]

### Dataset Overview

This dataset contains the data required to replicate analyses in Duntsch et al.

#### Funding

The resea...,