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

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)451-458
Number of pages8
JournalDevelopmental Biology
Issue number2
Early online date2 Dec 2015
DateAccepted/In press - 20 Nov 2015
DateE-pub ahead of print - 2 Dec 2015
DatePublished (current) - 15 Jan 2016


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.

    Research areas

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

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