Evaluation of truncating variants in the LCORL gene in relation to body size of goats from Switzerland

Graber, Jennifer Kalinka; Signer-Hasler, Heidi; Burren, Alexander; Drögemüller, Cord (2022). Evaluation of truncating variants in the LCORL gene in relation to body size of goats from Switzerland. Animal genetics, 53(2), pp. 237-239. Wiley 10.1111/age.13177

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This follow-up study aimed to investigate the previously postulated possible association between truncating variants in the LCORL gene and larger body size in goats. We have clearly shown that body size in Boer goat is obviously not associated with the frameshift variant previously found in large-sized Pakistani goat breeds, nor with a second LCORL frameshift variant studied. However, we found suggestive evidence of genotype–phenotype association for three other breed-specific truncating variants in the LCORL with withers height and other body size traits in selected cohorts of four different local Swiss goat breeds. Due to the small sample size and the low to moderate frequency of variant alleles, we consider these results preliminary before claiming causality. Nevertheless, these initial results in Swiss goats support the evidence previously shown in dogs for a direct effect on stature due to loss-of-function variants leading to the absence of the functionally important DNA-binding domain of the long LCORL isoform. Therefore, the research should continue with enlarged cohorts of well-phenotyped animals.

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