TY - JOUR
T1 - Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken
AU - Attie, Alan D.
AU - Hamon, Yannick
AU - Brooks-Wilson, Angela R.
AU - Gray-Keller, Mark P.
AU - MacDonald, Marcia L. E.
AU - Rigot, Veronique
AU - Tebon, Angie
AU - Zhang, Lin-Hua
AU - Mulligan, Jacob D.
AU - Singaraja, Roshni R.
AU - Bitgood, J. James
AU - Cook, Mark E.
AU - Kastelein, John J. P.
AU - Chimini, Giovanna
AU - Hayden, Michael R.
PY - 2002
Y1 - 2002
N2 - 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
AB - 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
U2 - https://doi.org/10.1194/jlr.M200223-JLR200
DO - https://doi.org/10.1194/jlr.M200223-JLR200
M3 - Article
C2 - 12364545
SN - 0022-2275
VL - 43
SP - 1610
EP - 1617
JO - Journal of Lipid Research
JF - Journal of Lipid Research
IS - 10
ER -