期刊
DEVELOPMENTAL BIOLOGY
卷 409, 期 2, 页码 451-458出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ydbio.2015.11.015
关键词
Cartilage homeo protein 1; CART1; Domestic cat; Facial development; Frontonasal dysplasia; FND; Felis silvestris catus
资金
- National Center for Research Resources [R24 RR016094]
- Office of Research Infrastructure Programs [OD R240D010928]
- NIH-NIDCR [R03-DE014965-01]
- Winn Feline Foundation (NAB-RFA) [W10-014, W11-041]
- Cat Health Network [D12FE-506, D12FE-508, D12FE-559]
- Center for Companion Animal Health [2009-05-F, 2008-36-F]
- Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis
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. (C) 2015 The Authors. Published by Elsevier Inc.
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