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Journal of Lipid Research, Vol. 43, 1610-1617, October 2002
Copyright © 2002 by Lipid Research, Inc.

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

Alan D. Attie^1,*, Yannick Hamon, Angela R. Brooks-Wilson, Mark P. Gray-Keller^*, Marcia L. E. MacDonald, Veronique Rigot, Angie Tebon^*, Lin-Hua Zhang, Jacob D. Mulligan^*, Roshni R. Singaraja, J. James Bitgood^**, Mark E. Cook^**, John J. P. Kastelein, Giovanna Chimini and Michael R. Hayden

^* Departments of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706
Department of Biochemistry, Centre d'Immunologie de Marseille Luminy, 13288 CEDEX 09, France
Xenon Genetics Inc., Vancouver, BC, V5G 4W8, Canada
^** Department of Animal Sciences, University of Wisconsin-Madison, Madison, WI 53706
Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics and Department of Medical Genetics, Children's and Women's Hospital, University of British Columbia, Vancouver, BC V5Z 4H5, Canada

¹ To whom correspondence should be addressed. e-mail: attie{at}biochem.wisc.edu

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.

Abbreviations: ABCA1, ATP-binding cassette protein-1; FHA, familial hypoalphalipoproteinemia; PC, phosphatidylcholine; SM, sphingomyelin; WHAM, Wisconsin hypoalpha mutant

Supplementary key words HDL • hypoalphalipoproteinemia • Tangier Disease

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