Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

作者：Lyons Leslie A^*; Erdman Carolyn A; Grahn Robert A; Hamilton Michael J; Carter Michael J; Helps Christopher R; Alhaddad Hasan; Gandolfi Barbara

来源：Developmental Biology, 2016, 409(2): 451-458.

DOI：10.1016/j.ydbio.2015.11.015

• Cartilage homeo protein 1
• CART1
• Domestic cat
• Facial development
• Frontonasal dysplasia
• FND
• Felis silvestris catus

Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular and is termed Contemporary Burmese. Genetic studies demonstrated that the brachycephyla of the Contemporary Burmese is a simple co-dominant trait, however, the homozygous cats have a severe craniofacial defect that is incompatible with life. The craniofacial defect of the Burmese was genetically analyzed over a 20 year period, using various genetic analysis techniques. Family-based linkage analysis localized the trait to cat chromosome B4. Genome-wide association studies and other genetic analyses of SNP data refined a critical region. Sequence analysis identified a 12 bp in frame deletion in ALX1, c.496delCTCTCAGGACTG, which is 100% concordant with the craniofacial defect and not found in cats not related to the Contemporary Burmese.

• 出版日期2016-1-15