Journal
JOURNAL OF LIPID RESEARCH
Volume 43, Issue 10, Pages 1610-1617Publisher
ELSEVIER
DOI: 10.1194/jlr.M200223-JLR200
Keywords
HDL; hypoalphalipoproteinemia; Tangier disease
Categories
Ask authors/readers for more resources
The Wisconsin hypoalpha mutant (WHAM) chicken has a >90% reduction in plasma HDL due to hypercatabolism. by the kidney of lipid-poor apoA-I. The WHAM chickens have a recessive white skin phenotype caused by a single-gene mutation that maps to the chicken Z-chromosome. This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia. Complete sequencing of the WHAM ABCA1 cDNA identified a missense mutation near the N-terminus of the protein (E89K). The substitution of this evolutionary conserved glutamate residue for lysine in the mouse ABCA1 transporter leads to complete loss of function, resulting principally from defective intracellular trafficking and very little ABCA1 reaching the plasma membrane. The WHAM chicken is a naturally occurring animal model for Tangier Disease.-Attie, A. D., Y. Hamon, A. R. Brooks-Wilson, M. P. Gray-Keller, M. L. E. MacDonald, V. Rigot, A. Tebon, L.-H. Zhang, J. D. Mulligan, R. R. Singaraja J.J. Bitgood, M. E. Cook, J.J. P. Kastelein, G. Chimini, and M. R. Hayden. Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available