ABCA1 p.Glu89Lys
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PMID: 12551945
[PubMed]
Mulligan JD et al: "ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens."
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42
The WHAM chicken ABCA1 gene has a G265A substitution that results in a glutamic acid to lysine substitution at amino acid 89 of the ABCA1 protein (E89K) (37).
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ABCA1 p.Glu89Lys 12551945:42:71
status: NEWX
ABCA1 p.Glu89Lys 12551945:42:147
status: NEW48 In vitro studies showed that the E89K mutation results in intracellular accumulation of ABCA1, decreasing plasma membrane ABCA1 expression by 80-90% of wild type ABCA1 (determined by cell surface biotinylation) and resulting in a complete loss of function assayed by both annexin-V and apoAI binding (37).
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ABCA1 p.Glu89Lys 12551945:48:33
status: NEW313 The mechanism for the effect of ABCA1 dysfunction on triglyceride synthesis is unknown but may be caused by instability of SREBP-1c and lipogenic enzymes in the endoplasmic reticulum membrane, possibly due to the intracellular accumulation of the E89K ABCA1 variant (37).
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ABCA1 p.Glu89Lys 12551945:313:247
status: NEW314 The mechanism for the effect of ABCA1 dysfunction on triglyceride synthesis is unknown but may be caused by instability of SREBP-1c and lipogenic enzymes in the endoplasmic reticulum membrane, possibly due to the intracellular accumulation of the E89K ABCA1 variant (37).
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ABCA1 p.Glu89Lys 12551945:314:247
status: NEW
PMID: 12364545
[PubMed]
Attie AD et al: "Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken."
No.
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3
Complete sequencing of the WHAM ABCA1 cDNA identified a missense mutation near the N-terminus of the protein (E89K).
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ABCA1 p.Glu89Lys 12364545:3:110
status: NEW6 Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
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ABCA1 p.Glu89Lys 12364545:6:64
status: NEW34 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.
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ABCA1 p.Glu89Lys 12364545:34:94
status: NEW95 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).
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ABCA1 p.Glu89Lys 12364545:95:167
status: NEWX
ABCA1 p.Glu89Lys 12364545:95:222
status: NEW99 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.
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ABCA1 p.Glu89Lys 12364545:99:27
status: NEWX
ABCA1 p.Glu89Lys 12364545:99:196
status: NEW118 B: The WHAM chicken ABCA1 gene has a single amino acid substitution (E89K) relative to normal White Leghorn chicken.
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ABCA1 p.Glu89Lys 12364545:118:69
status: NEW126 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.
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ABCA1 p.Glu89Lys 12364545:126:65
status: NEW140 The non-conservative E89K mutation described here makes a strong case that this is indeed the WHAM mutation.
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ABCA1 p.Glu89Lys 12364545:140:21
status: NEW
No.
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Comment
689
Attie AD, Hamon Y, Brooks-Wilson AR, Gray-Keller MP, MacDonald ML, et al. 2002. Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
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ABCA1 p.Glu89Lys 17002594:689:144
status: NEW
PMID: 16940190
[PubMed]
Singaraja RR et al: "Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo."
No.
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193
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.
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ABCA1 p.Glu89Lys 16940190:193:243
status: NEW
PMID: 24346170
[PubMed]
Meyers KJ et al: "Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS)."
No.
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381
Attie AD, Hamon Y, Brooks-Wilson AR, et al. Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
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ABCA1 p.Glu89Lys 24346170:381:108
status: NEW
PMID: 25300953
[PubMed]
Niesor EJ et al: "Effect of compounds affecting ABCA1 expression and CETP activity on the HDL pathway involved in intestinal absorption of lutein and zeaxanthin."
No.
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Comment
17
In the Wisconsin HypoAlpha Mutant chicken, a single E89K loss of function mutation in the ATP-binding cassette transporter (ABC) A1 gene [12] results in a [95 % decrease in HDL cholesterol (HDL-C) [13], and dietary supplementation with lutein is poorly effective in raising plasma, tissue, and retinal lutein [14].
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ABCA1 p.Glu89Lys 25300953:17:52
status: NEW
PMID: 25569858
[PubMed]
Niesor EJ et al: "Will Lipidation of ApoA1 through Interaction with ABCA1 at the Intestinal Level Affect the Protective Functions of HDL?"
No.
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Comment
341
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
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ABCA1 p.Glu89Lys 25569858:341:64
status: NEW