ABCB1 p.Ile235Leu
Predicted by SNAP2: | A: N (61%), C: N (53%), D: D (85%), E: D (80%), F: N (82%), G: D (75%), H: D (66%), K: D (75%), L: N (82%), M: N (87%), N: D (71%), P: D (85%), Q: D (66%), R: D (75%), S: N (66%), T: N (61%), V: N (87%), W: N (57%), Y: N (66%), |
Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Localization of genes for V+LDL plasma cholesterol... J Lipid Res. 2010 Oct;51(10):2929-39. Epub 2010 Jul 22. Kammerer CM, Rainwater DL, Gouin N, Jasti M, Douglas KC, Dressen AS, Ganta P, Vandeberg JL, Samollow PB
Localization of genes for V+LDL plasma cholesterol levels on two diets in the opossum Monodelphis domestica.
J Lipid Res. 2010 Oct;51(10):2929-39. Epub 2010 Jul 22., [PMID:20650928]
Abstract [show]
Plasma cholesterol levels among individuals vary considerably in response to diet. However, the genes that influence this response are largely unknown. Non-HDL (V+LDL) cholesterol levels vary dramatically among gray, short-tailed opossums fed an atherogenic diet, and we previously reported that two quantitative trait loci (QTLs) influenced V+LDL cholesterol on two diets. We used hypothesis-free, genome-wide linkage analyses on data from 325 pedigreed opossums and located one QTL for V+LDL cholesterol on the basal diet on opossum chromosome 1q [logarithm of the odds (LOD) = 3.11, genomic P = 0.019] and another QTL for V+LDL on the atherogenic diet (i.e., high levels of cholesterol and fat) on chromosome 8 (LOD = 9.88, genomic P = 5 x 10(-9)). We then employed a novel strategy involving combined analyses of genomic resources, expression analysis, sequencing, and genotyping to identify candidate genes for the chromosome 8 QTL. A polymorphism in ABCB4 was strongly associated (P = 9 x 10(-14)) with the plasma V+LDL cholesterol concentrations on the high-cholesterol, high-fat diet. The results of this study indicate that genetic variation in ABCB4, or closely linked genes, is responsible for the dramatic differences among opossums in their V+LDL cholesterol response to an atherogenic diet.
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No. Sentence Comment
109 For ABCB4, the Ile235Leu SNP was genotyped using restriction site-generating PCR (RG-PCR) (27).
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ABCB1 p.Ile235Leu 20650928:109:15
status: NEW175 Association and linkage analyses of variants for INSIG1 and ABCB4 regions All animals with DNA were genotyped for the INSIG1 marker (8M706) and the ABCB4 Ile235Leu SNP.
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ABCB1 p.Ile235Leu 20650928:175:154
status: NEW216 Genotypes of five highand five low-V+LDL responders for three nonsynonymous SNPs and a microsatellite for INSIG1 and ABCB4 INSIG1 ABCB4 Animal ID High or Low V+LDL Group Arg24Gly C/G 8M706 170/172 Ile235Leu A/T Arg29Gly A/G E4855 High CC 172/172 TT GG E0946 High CC 172/172 TT GG E3023 High GG 170/170 AT AG E3030 High CG 170/172 AT AG E3203 High GG 170/170 AT AG E3026 Low CG 170/172 AT AG E3020 Low CG 170/172 AT AG E3198 Low CC 172/172 TT GG E3205 Low GG 170/170 AA AA E3202 Low CG 170/172 AT AG SNP, single-nucleotide polymorphism.
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ABCB1 p.Ile235Leu 20650928:216:197
status: NEW229 However, variation marked by the ABCB4 Ile235Leu SNP genotype is associated with only ~35% of the additive genetic variation in V+LDL cholesterol (Fig. 3), whereas the Mdo 8 QTL accounted for ~65% of the additive genetic variance.
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ABCB1 p.Ile235Leu 20650928:229:39
status: NEW