OMIA:002246-9925 : Height, LCORL-associated body-size variation in Capra hircus (goat)
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Barbari (Goat) (VBO_0000728),
Beetal (Goat) (VBO_0000729),
Dera Din Panah, Pakistan (Goat) (VBO_0009774),
Kamori (Goat) (VBO_0000783),
Nachi, Pakistan (Goat) (VBO_0009786).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LCORL||Capra hircus||6||NC_030813.1 (38069012..37904351)||LCORL||Homologene, Ensembl , NCBI gene|
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