OMIA:002246-9925 : Height, LCORL-associated body-size variation in Capra hircus
Categories: Growth / size / body region phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 611799 (gene)
Links to MONDO diseases: No links.
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).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LCORL||Capra hircus||-||no genomic information (-..-)||LCORL||Ensembl|
Cite this entry
|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.|
- Created by Frank Nicholas on 13 Feb 2020
- Changed by Frank Nicholas on 13 Feb 2020
- Changed by Tosso Leeb on 15 Feb 2020