ABCMdb

PMID: 12364545

Attie AD, Hamon Y, Brooks-Wilson AR, Gray-Keller MP, MacDonald ML, Rigot V, Tebon A, Zhang LH, Mulligan JD, Singaraja RR, Bitgood JJ, Cook ME, Kastelein JJ, Chimini G, Hayden MR
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
J Lipid Res. 2002 Oct;43(10):1610-7., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA1 p.Glu89Lys Complete sequencing of the WHAM ABCA1 cDNA identified a missense mutation near the N-terminus of the protein (E89K). Login to comment 6 ABCA1 p.Glu89Lys Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken. Login to comment 34 ABCA1 p.Glu89Lys We have cloned and sequenced the chicken ABCA1 gene and show that a single missense mutation (E89K) in the amino terminus of ABCA1 results in altered trafficking of ABCA1 with its retention in the endoplasmic reticulum and loss of function at the plasma membrane. Login to comment 95 ABCA1 p.Glu89Lys ABCA1 p.Glu89Lys The sequences of the normal and mutant chickens ABCA1 CDNAs were identical with the exception of a G to A transition in WHAM DNA at nucleotide 265, corresponding to a glutamic acid to lysine substitution at amino acid 89 (E89K) (Fig. 3B). Login to comment 99 ABCA1 p.Glu89Lys ABCA1 p.Glu89Lys Functional analysis of the E89K mutation in the ABCA1 gene In order to establish the impact of the WHAM mutation on the function of the ABCA1 transporter, we engineered a construct harbouring the E89K mutation on a murine ABCA1/EGFP chimeric backbone. Login to comment 118 ABCA1 p.Glu89Lys B: The WHAM chicken ABCA1 gene has a single amino acid substitution (E89K) relative to normal White Leghorn chicken. Login to comment 126 ABCA1 p.Glu89Lys D: The glutamate residue at the position of the non-conservative E89K substitution is conserved between human (CAA10005), mouse (CAA53530), Takifugu rubripes ("fugu"), and chicken. Login to comment 140 ABCA1 p.Glu89Lys The non-conservative E89K mutation described here makes a strong case that this is indeed the WHAM mutation. Login to comment