OMIA 002246-9925 : Height, LCORL-associated body-size variation in Capra hircus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611799

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: no

Markers: Saif et al. (2020) reported that "A search for signatures that are shared across large-sized goat breeds revealed that five medium-to-large-sized Pakistani goat breeds had a common selection signature on chromosome 6 in a region harboring the LCORL gene, which has been shown to modulate height or body size in several mammalian species. Fine-mapping of the region confirmed that all five goat breeds with the selection signature were nearly fixed for the same haplotype in a ~191 kb region spanning positions 37,747,447–37,938,449. From the pool sequencing data, we identified a frame-shifting single base insertion into an isoform-specific exon of LCORL as a potential candidate causal variant mediating the size-increasing effect."

The variant can be designated as XM_018049322.1:c.828_829insA or XP_017904811.1:p.(Ser277Ilefs*38). The authors cautioned that this represents a preliminary finding. Proving the causality of this variant for the size increasing effect will require further studies (Saif et al., 2020).

Breeds: Barbari, Beetal, Dera Din Panah, Kamori, Nachi.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LCORL Capra hircus - no genomic information (-..-) LCORL Ensembl

Reference


2020 Saif, R., Henkel, J., Jagannathan, V., Drögemüller, C., Flury, C., Leeb, T. :
The <i>LCORL</i> Locus is under Selection in Large-Sized Pakistani Goat Breeds. Genes (Basel) 11:, 2020. Pubmed reference: 32033434. DOI: 10.3390/genes11020168.

Edit History


  • Created by Frank Nicholas on 13 Feb 2020
  • Changed by Frank Nicholas on 13 Feb 2020
  • Changed by Tosso Leeb on 15 Feb 2020