title: Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds.
abstract: 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.
authors: Center for Companion Animal Health, Koret Center for Veterinary Genetics, School of Veterinary Medicine, University of California, One Shields Avenue, Davis, CA 95616, USA.
authors: Barbara
authors: B
authors: Gandolfi
authors: Hongwei
authors: H
authors: Liu
authors: Layle
authors: L
authors: Griffioen
authors: Niels C
authors: NC
authors: Pedersen
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics / Q000662:veterinary*; D000595:Amino Acid Sequence; D000818:Animals; D003746:Dental Enamel Proteins / Q000235:genetics*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005808:Genes, Recessive; D008969:Molecular Sequence Data; D009154:Mutation; D016415:Sequence Alignment
chemical_list: D003746:Dental Enamel Proteins; C038456:tuftelin
keywords: Canis familiaris autosome (CFA) 13; enamel hypoplasia; enamelin; miniature greyhound; recessive