Ancestral T-Box Mutation Is Present in Many, but Not All, Short-Tailed Dog Breeds
Ancestral T-Box Mutation Is Present in Many, but Not All, Short-Tailed Dog Breeds
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DOI：
10.1093/jhered/esn085
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发表时间：
2009-03-01
影响因子：
3.1
通讯作者：
Andre, Catherine
中科院分区：
文献类型：
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作者：
Hytonen, Marjo K.;Grall, Anais;Andre, Catherine
狗的形态特征差异很大，包括各种尾巴表型。先天性短尾犬存在于许多品种中;然而，位于T-box转录因子T基因（C189 G）的致病突变仅在短尾彭布罗克威尔士柯基犬中描述。我们在这里调查的T基因突变的存在下，在其他23个品种（360只狗，包括156自然短尾），其中自然bobtailed狗存在。在观察到C189 G突变的17个品种中，该突变与短尾表型之间存在完美的相关性。但有6个品种的T基因编码区未发生已知的替换或其他突变。没有发现C189 G突变纯合子的犬，表明纯合子条件是致命的。为了研究T基因突变对产仔数的影响，我们比较了短尾父母和长尾父母所生幼犬的数量。在瑞典Vallhund品种，我们观察到一个29%的减少，在产仔数时，父母都是短尾。鉴于T基因突变并不存在于所有品种的短尾犬中，必须发现影响尾巴表型的其他遗传因素。
Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds; however, the causative mutation located in the T-box transcription factor T gene (C189G) had only been described in the bobtailed Pembroke Welsh Corgis. We investigated here the presence of the T gene mutation in 23 other breeds (360 dogs, including 156 natural short tailed) in which natural bobtailed dogs exist. In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. No dogs were found to be homozygous for the C189G mutation, suggesting that the homozygous condition is lethal. In order to study the effect of the T gene mutation on litter size, we compared the number of puppies born from short-tailed parents to that born from long-tailed parents. In the Swedish Vallhund breed, we observed a 29% decrease in the litter size when both parents were short tailed. Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered.