Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats
In: Developmental Biology, Jg. 409 (2016), Heft 2
academicJournal
- 451 - 458
Zugriff:
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.
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Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats
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Autor/in / Beteiligte Person: | Lyons, Leslie A ; Erdman, Carolyn A ; Grahn, Robert A ; Hamilton, Michael J ; Carter, Michael J ; Helps, Christopher R ; Alhaddad, Hasan ; Gandolfi, Barbara |
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Zeitschrift: | Developmental Biology, Jg. 409 (2016), Heft 2 |
Veröffentlichung: | eScholarship, University of California, 2016 |
Medientyp: | academicJournal |
Umfang: | 451 - 458 |
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