[HTML][HTML] Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken

AD Attie, Y Hamon, AR Brooks-Wilson… - Journal of lipid …, 2002 - ASBMB
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 …