Two linked TBXT (brachyury) gene polymorphisms are associated with the tailless phenotype in fat-rumped sheep.

T-box transcription factor T (TBXT), encoding the brachyury protein, is an embryonic nuclear transcription factor involved in mesoderm formation and differentiation. Previous studies indicate that TBXT mutations are responsible for the tailless or short-tailed phenotype of many vertebrates. To verify whether the tailless phenotype in fat-rumped sheep is associated with TBXT mutations, exon 2 of the TBXT gene for 301 individuals belonging to 13 Chinese and Iranian sheep breeds was directly sequenced. Meanwhile, 380 samples were used to detect the genotypes of the candidate variations by mapping to their reads databases in the Sequence Read Archive repository of GenBank. The results showed that one missense mutation, c.334G>T (GGG>TGG) with a completely linked synonymous variant c.333G>C (CCG>CCC) was found to be associated with the 'tailless' characteristic in typical fat-rumped sheep breeds. The c.334G>T transversion led to the conversion of glycine to tryptophan at the 112th amino acid in the T-box domain of the brachyury protein. In addition, crossbreeding experiments for long-tailed and tailless sheep showed that CT/CT allele of nucleotides (nt) 333 and 334, a recessive mutation, would cause sheep tails to be shorter, suggesting that these two linked variants at nucleotides 333 and 334 in TBXT are probably causative mutations responsible for the tailless phenotype in sheep.