In other species: ass (donkey) , pig , domestic yak

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 620468 (gene)

Single-gene trait/disorder: unknown

Disease-related: unknown

Cross-species summary: This phene was originally named 'Rib and vertebral number' in OMIA

Markers: Li et al. (2019) "identified a total of 42,075,402 SNPs and 11 putatively selected genomic regions, including the VRTN gene and the HoxA gene family that regulate vertebral development. The most prominent areas of selective elimination were located in a region of chromosome 7, including VRTN, which regulates spinal development and morphology. Further investigation indicated that the expression level of the VRTN gene during fetal development was significantly higher in sheep with more thoracic vertebrae than in those with a normal number of thoracic vertebrae."
Zhong et al. (2021) analysed “expression levels of synapse differentiation inducing 1-like (SYNDIG1L) and unc-13 homolog C (UNC13C) genes in different tissues, while single-nucleotide polymorphisms … of UNC13C gene g.52919279C > T and SYNDIG1L gene g.82573325C > A in T14 and T13 were genotyped by the Sequenom MassARRAY® SNP assay, and association analysis was performed with the TVN [thoracic vertebral number]. … Association analysis showed that SNPs found in the UNC13C gene had no significant effects on TVN … . The polymorphism of SYNDIG1L g.82573325C > A was significantly correlated with the TVN in both STH [Small-tail Han sheep] ( P<0.05 ) and SNT [Sunite sheep] ( P<0.01 ). Taken together, the SYNDIG1L gene was related to thoracic vertebral development, and this variation may be potentially used as a molecular marker to select the multiple thoracic vertebrae in sheep.” Li et al. (2021) "performed high-throughput genome resequencing on multi-lumbar vertebrae (n = 18) and normal (n = 11) Duolang sheep ... . We found that the most significantly selective region were located in the 49.68-49.74 MB of chromosome 4 by selective-sweep analysis. We annotated this region and found that it contains SFRP4 which is known to regulate bone development. We further used the PCR-SSCP technology to detect the single nucleotide polymorphism (SNP) of the putative candidate SFRP4 and found that the two SNPs (rs600370085:C > T and rs415133338: A > G) of this gene were significantly associated with the multi-lumbar vertebrae of Duolang sheep."

Breeds: Duolang, China (Sheep) (VBO_0015741), Hu, China (Sheep) (VBO_0015749), Small Tailed Han, China (Sheep) (VBO_0015757), Sunite (Sheep) (VBO_0016880).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated genes: