OMIA 002077-9913 : Body weight in Bos taurus

In other species: chicken , pig

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: unknown

Key variant known: no

Mapping: Reynolds et al. (2021) “report one of the largest sequence-resolution screens of cattle to date, targeting discovery and validation of non-additive effects in 130,725 animals. We highlight six novel recessive loci with impacts [on body weight, stature or body condition score] generally exceeding the largest-effect variants identified from additive genome-wide association studies … . … we detail six novel putative causative mutations with effects ranging from mild (3.5% reduction in body weight) to severe (>25% reduction in body weight and increased early-life mortality). … These loci present compelling missense (PLCD4, MTRF1 and DPF2), premature stop (MUS81) and splice-disrupting (GALNT2 and FGD4) mutations, together explaining substantial proportions of inbreeding depression. … These discoveries demonstrate the use of proxy phenotypes to directly map deleterious effects in the absence of prior disease identification, an approach that holds promise for the identification of similar effects in other selected species.”

Separate OMIA entries have been created for the FGD4 and GALNT2 related phenes, as the authors were able to investigate the phenotype of animals which were homozygous for the likely causal variant in more detail: OMIA 002374-9913 : Charcot Marie Tooth disease, FGD4-related in Bos taurus & OMIA 002375-9913 : Congenital disorder of glycosylation, GALNT2-related in Bos taurus, respectively.

Reference


2021 Reynolds, E.G.M., Neeley, C., Lopdell, T.J., Keehan, M., Dittmer, K., Harland, C.S., Couldrey, C., Johnson, T.J.J., Tiplady, K., Worth, G., Walker, M., Davis, S.R., Sherlock, R.G., Carnie, K., Harris, B.L., Charlier, C., Georges, M., Spelman, R.J., Garrick, D.J., Littlejohn, M.D. :
Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. Nat Genet 53:949-54, 2021. Pubmed reference: 34045765. DOI: 10.1038/s41588-021-00872-5.

Edit History


  • Created by Imke Tammen2 on 09 Aug 2021
  • Changed by Imke Tammen2 on 09 Aug 2021