Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken
| Autor: | John J.P. Kastelein, Veronique Rigot, Roshni R. Singaraja, Lin-Hua Zhang, Angie Tebon, Giovanna Chimini, Marcia L.E. MacDonald, Angela Brooks-Wilson, Mark P. Gray-Keller, Mark E. Cook, Jacob D. Mulligan, Yannick Hamon, J. J. Bitgood, Michael R. Hayden, Alan D. Attie |
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| Přispěvatelé: | Vascular Medicine |
| Rok vydání: | 2002 |
| Předmět: |
HDL
Lipoproteins Mutant Mutation Missense QD415-436 Biology medicine.disease_cause Endoplasmic Reticulum Biochemistry hypoalphalipoproteinemia Mice Endocrinology Tangier disease Complementary DNA Sequence Homology Nucleic Acid medicine Missense mutation Animals Humans Gene Phospholipids Tangier Disease Genetics Mutation Microscopy Confocal Base Sequence Cell Membrane nutritional and metabolic diseases Chromosome Mapping Cell Biology medicine.disease Molecular biology Carotenoids White (mutation) Disease Models Animal Protein Transport Cholesterol Phenotype ABCA1 biology.protein lipids (amino acids peptides and proteins) ATP-Binding Cassette Transporters Chickens ATP Binding Cassette Transporter 1 HeLa Cells |
| Zdroj: | Journal of lipid research, 43(10), 1610-1617. American Society for Biochemistry and Molecular Biology Inc. Journal of Lipid Research, Vol 43, Iss 10, Pp 1610-1617 (2002) |
| ISSN: | 0022-2275 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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