ABCMdb

PMID: 23519333

Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y
Mutations in ABCB6 cause dyschromatosis universalis hereditaria.
J Invest Dermatol. 2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCB6 p.Leu356Pro After excluding the two known DUH loci, we performed genome-wide linkage analysis and identified a DUH locus on chromosome 2q33.3-q36.1 with a maximum LOD score of 3.49 with marker D2S2382. Exome sequencing identified a c.1067T4C (p.Leu356Pro) mutation in exon 3 of ABCB6 (ATP-binding cassette subfamily B, member 6) in the DUH family. Login to comment 4 ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly Two additional missense mutations, c.508A4G (p.Ser170Gly) in exon 1 and c.1736G4A (p.Gly579Glu) in exon 12 of ABCB6, were found in two out of six patients by mutational screening using sporadic DUH patients. Login to comment 55 ABCB6 p.Leu356Pro Mutation of the ABCB6 gene in DUH patients The c.1067T4C mutation in ABCB6 leads to a proline to leucine substitution at codon 356 (p.Leu356Pro) in the ABCB6 protein. Login to comment 58 ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly Two additional missense mutations, c.508A4G (p.Ser170Gly) in exon 1 and c.1736G4A (p.Gly579Glu) in exon 12 (Figure 2a) of ABCB6, were identified in two of these six cases. Login to comment 82 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly The wild-type ABCB6 and three mutant forms of ABCB6 (p.Ser170Gly, p.Leu356Pro, and p.Gly579Glu) were tagged with enhanced green fluorescent protein (EGFP) fusion proteins and then transfected into mouse B16 cells, respectively. The localization of the various fusion proteins was determined by confocal microscopy. Login to comment 116 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly (a) The mutations in ABCB6 and their Sanger sequencing tracing, including c.1067T4C (p.Leu356Pro) (reverse complement), c.508A4G (p.Ser170Gly), and c.1736G4A (p.Gly579Glu). Login to comment 138 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly Genotypes were analyzed by the Gene ABCB6 GaIT DAPI Merge WT Ser170Gly Leu356Pro Gly579Glu Figure 3. Login to comment 171 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly Next, we performed site-directed mutagenesis to generate the three ABCB6 mutations associated with DUH (p.Ser170Gly, p.Leu356Pro, and p.Gly579Glu). Login to comment