In other species: pig , sheep , woolly mammoth

Categories: Hearing / vestibular / ear phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600409 (gene) , 605186 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: no

Species-specific description: Shen et al. (2023) investigated ear size in Bos taurus, Bos indicus and hybrids. "Results showed that the ear size of breeds followed the order: Bos indicus > hybrid (Yunling) and Chinese indicine (Wenshan and Dabieshan cattle) cattle > Bos taurus ..."

Mapping: Shen et al. (2023) "performed a genome-wide association study on 158 cattle to explain the genetic mechanism of ear size. One region on BTA6 between 36.79 and 38.80 Mb included 50 suggestive SNPs and 4 significant SNPs that were significantly associated with ear size."

Molecular basis: Shen et al. (2023) "The most significant locus (P = 1.30 × 10-8) was a missense mutation (T250I) on the seventh exon of integrin-binding sialoprotein (IBSP), which had an allele substitution effect of 23.46 cm2 for ear size. ... A allele frequency of IBSP was lowest in South Asian indicine cattle (0.10), and the frequency was 0.47 in Chinese indicine cattle. However, the A frequency of IBSP was near or equal to 1 in East Asian, European, and Eurasian taurine cattle ... .To further evaluate the functional impact of the variants, we aligned the mutant IBSP protein with its ortholog proteins in Bovidae ... and other diverse vertebrates ... . The comparison revealed that T250 was a conserved amino acid mutation and varied among all the other animals we examined except Bos taurus (T250I), lesser mouse-deer (T250S), and white-lipped deer (T250A). ... These three mutant species had small ears, and this finding was consistent with our present hypothesis."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: