Center for Companion Animal Health, Koret Center for Veterinary Genetics, School of Veterinary Medicine, University of California, One Shields Avenue, Davis, CA 95616, USA.
Anim Genet. 2013 Aug;44(5):569-78. doi: 10.1111/age.12043. Epub 2013 May 3.
We report a familial enamel hypoplasia in Italian Greyhounds resembling non-syndromic autosomal recessive amelogenesis imperfecta (AI) of humans. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling. Affected teeth are often small and pointed with increased gaps. However, basic tooth structure is usually maintained throughout life, and fractures and dental cavities are not a serious problem as in humans. No tissues or organs other than teeth were affected by this mutation, and there was no relationship between enamel hypoplasia and either autoimmunity or periodontal disease, which also are prevalent in the breed. The enamel hypoplasia was associated with a 5-bp deletion in exon 10 of the enamelin (ENAM) gene. The prevalence of the enamel defect in Italian Greyhounds was 14%, and 30% of dogs with normal teeth were carriers. Genome analyses suggest that the trait is under inadvertent positive selection. Based on the deletion detected in the ENAM gene, a genetic test was developed for identifying mutation carriers, which would enable breeders to manage the trait.
我们报告了一种意大利灰狗的家族性牙釉质发育不全，类似于人类的非综合征常染色体隐性遗传性牙釉质不全（AI）。该病症均匀地影响乳牙和恒牙，表现为牙釉质粗糙/变薄和棕色斑点。受影响的牙齿通常较小且尖锐，间隙增大。然而，基本的牙齿结构通常在整个生命周期中得以维持，并且不会像人类那样出现牙齿断裂和龋齿等严重问题。除牙齿外，这种突变没有影响其他任何组织或器官，牙釉质发育不全也与自身免疫或牙周病无关，而这两种疾病在该品种中也很常见。牙釉质发育不全与牙釉蛋白（ENAM）基因第 10 外显子中的 5 个碱基对缺失有关。意大利灰狗的牙釉质缺陷患病率为 14%，而正常牙齿的狗中有 30%是携带者。基因组分析表明，该特征受到了无意识的正选择。基于在 ENAM 基因中检测到的缺失，开发了一种用于识别突变携带者的基因测试，这将使饲养员能够对该特征进行管理。
