title: Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.
abstract: 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 12bp 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.
authors.affiliation: Department of Veterinary Medicine & Surgery, College of Veterinary Medicine, University of Missouri-Columbia, Columbia, MO 65211, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA. Electronic address: Lyonsla@Missouri.edu.
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Lyons
authors.affiliation: Department of Psychiatry, University of California-San Francisco, San Francisco, CA 94143, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA.
authors.forename: Carolyn A
authors.initials: CA
authors.lastname: Erdman
authors.affiliation: Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 96516, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Grahn
authors.affiliation: Department of Cell Biology and Neuroscience, Institute for Integrative Genome Biology, Center for Disease Vector Research, University of California-Riverside, Riverside, CA 92521, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Hamilton
authors.affiliation: MDxHealth Inc, 15279 Alton Parkway, Suite #100, Irvine, CA 92618, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Carter
authors.affiliation: Langford Veterinary Services, University of Bristol, Bristol BS40 5DU, UK.
authors.forename: Christopher R
authors.initials: CR
authors.lastname: Helps
authors.affiliation: College of Science, Kuwait University, Safat, Kuwait.
authors.forename: Hasan
authors.initials: H
authors.lastname: Alhaddad
authors.affiliation: Department of Veterinary Medicine & Surgery, College of Veterinary Medicine, University of Missouri-Columbia, Columbia, MO 65211, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95776, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Gandolfi
mesh_terms: D000818:Animals; D001947:Breeding; D002415:Cats; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D056726:Genetic Association Studies; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D018398:Homeodomain Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins
keywords: CART1; Cartilage homeo protein 1; Domestic cat; FND; Facial development; Felis silvestris catus; Frontonasal dysplasia