ABCB5 p.Val115Glu

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PMID: 23770371 [PubMed] Lin JY et al: "Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk."
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5 Twelve human melanoma cell lines were genotyped for the rs2301641 SNP, which encodes a non-synonymous ABCB5 amino acid change (K115E).
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ABCB5 p.Val115Glu 23770371:5:127
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7 Our results identify novel associations of the ABCB5 K115E polymorphism with human pigmentation phenotype and melanoma risk and point to potential functional roles of ABCB5 in melanomagenesis.
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ABCB5 p.Val115Glu 23770371:7:53
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30 Among single nucleotide polymorphisms (SNPs) of the ABCB5 gene, several, including the rs2301641 SNP, which encodes a non-synonymous ABCB5 amino acid change (K115E), have been predicted to be relevant to ABCB5 function based on bioinformatic analyses [17].
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ABCB5 p.Val115Glu 23770371:30:158
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34 We confirmed the direct association of one of these SNPs, rs2301641 (K115E), with ABCB5 function and, furthermore, uncovered a novel association of ABCB5 with pigmentation.
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ABCB5 p.Val115Glu 23770371:34:69
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112 3.5. Association between rs2301641 genotype and ABCB5-mediated Rh-123 efflux capacity The SNP rs2301641 encodes a non-synonymous ABCB5 amino acid change (K115E).
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ABCB5 p.Val115Glu 23770371:112:154
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126 Importantly, evaluation of relative Rh-123 efflux capacities in melanoma cell lines genotyped for the rs2301641 ABCB5 SNP (K115E) revealed that the SNP allele G (Glu [E]) was associated with markedly lower, 89%-reduced Rh-123 efflux capacity compared to the SNP allele A (Lys [K]) (P < 0.01, Fig. 3A).
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ABCB5 p.Val115Glu 23770371:126:123
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128 3.6. Association between rs2301641 genotype and pigmentation Given the additional association of the rs2301641 ABCB5 SNP with non-red compared to red hair color (OR: 0.38, 95% CI: 0.141.03) in control subjects, we measured melanin concentration, a measure of pigmentation, in eleven human melanoma cell lines genotyped for this SNP (K115E).
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ABCB5 p.Val115Glu 23770371:128:333
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134 (A) Relative Rh-123 efflux capacities in melanoma cell lines genotyped for the rs2301641 ABCB5 SNP (K115E) (means &#b1; SE; // P < 0.01).
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ABCB5 p.Val115Glu 23770371:134:100
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135 (B) Relative pigmentation in melanoma cell lines genotyped for the rs2301641 ABCB5 SNP (K115E) (means &#b1; SE; / P < 0.05).
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ABCB5 p.Val115Glu 23770371:135:88
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ABCB5 p.Val115Glu 23770371:135:100
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137 Discussion In this study, we have identified three SNPs of the ABCB5 gene associated with melanoma risk, and shown for one SNP (rs2301641), which encodes a non-synonymous ABCB5 amino acid change (K115E), that the variant genotype that confers decreased melanoma risk is associated with lower ABCB5 protein function.
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ABCB5 p.Val115Glu 23770371:137:196
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141 Bioinformatic in silico analyses of ABCB5 gene polymorphisms had previously predicted the K115E amino acid substitution encoded by the rs2301641 SNP, which changes a positively charged amino acid to a negatively charged one and localizes to an extracellular loop of the ABCB5 protein [4], to be potentially deleterious to ABCB5 molecular function [17], a notion now for the first time experimentally supported by our study.
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ABCB5 p.Val115Glu 23770371:141:90
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136 (B) Relative pigmentation in melanoma cell lines genotyped for the rs2301641 ABCB5 SNP (K115E) (means &#b1; SE; / P < 0.05).
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ABCB5 p.Val115Glu 23770371:136:88
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138 Discussion In this study, we have identified three SNPs of the ABCB5 gene associated with melanoma risk, and shown for one SNP (rs2301641), which encodes a non-synonymous ABCB5 amino acid change (K115E), that the variant genotype that confers decreased melanoma risk is associated with lower ABCB5 protein function.
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ABCB5 p.Val115Glu 23770371:138:196
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142 Bioinformatic in silico analyses of ABCB5 gene polymorphisms had previously predicted the K115E amino acid substitution encoded by the rs2301641 SNP, which changes a positively charged amino acid to a negatively charged one and localizes to an extracellular loop of the ABCB5 protein [4], to be potentially deleterious to ABCB5 molecular function [17], a notion now for the first time experimentally supported by our study.
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ABCB5 p.Val115Glu 23770371:142:90
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