Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

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Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria Caie Zhang, Duanzhuo Li, Jianguo Zhang, Xingping Chen, Mi Huang, Stephen Archacki, Yuke Tian, Weiping Ren, Aihua Mei, Qingyan Zhang, Mingyan Fang, Zheng Su, Ye Yin, Dongxian Liu, Yingling Chen, Xiukun Cui, Chang Li, Huanming Yang, Qing Wang, Jun Wang, Mugen Liu, Yunhua Deng Journal of Investigative Dermatology Volume 133, Issue 9, Pages 2221-2228 (September 2013) DOI: 10.1038/jid.2013.145 Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigree and clinical features. (a) Pedigree and haplotype analysis. The disease haplotype is indicated by a black bar. Black symbols represent affected individuals, and open symbols represent unaffected individuals. Circles and squares indicate female and male individuals, respectively. The arrow indicates the proband in the family. (b–e) Clinical characteristics of the proband with dyschromatosis universalis hereditaria (DUH). The proband, a 9-year-old boy, was involved with motley hyperpigmented and hypopigmented macules on his (b) face and neck, (d) trunk, and the (e) dorsa of hands and (c) feet in a symmetrical pattern. Journal of Investigative Dermatology 2013 133, 2221-2228DOI: (10.1038/jid.2013.145) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 ABCB6 mutations cause dyschromatosis universalis hereditaria (DUH). (a) The mutations in ABCB6 and their Sanger sequencing tracing, including c.1067T>C (p.Leu356Pro) (reverse complement), c.508A>G (p.Ser170Gly), and c.1736G>A (p.Gly579Glu). (b) The mutations in ABCB6 occurred in the evolutionarily conserved regions. A partial sequence of ABCB6 was compared with other species orthologs. Arrows indicate the location of the three mutations identified in DUH patients. (c) Immunohistologic staining of human skin shows that ABCB6 is localized in the basal layers of the epidermis and has a diffuse cytoplasmic distribution. The right panel indicates a higher magnification of an insert in the left panel. Original magnifications × 100 and × 400. Nuclei are counterstained with hematoxylin. (d) Western blot analysis shows the expression of ABCB6 in HaCaT and A375 cells. ABCB6, ATP-binding cassette subfamily B, member 6; GAPDH, glyceraldehyde-3-phosphate dehydrogenase. Journal of Investigative Dermatology 2013 133, 2221-2228DOI: (10.1038/jid.2013.145) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Subcellular localization of wild-type and mutated ABCB6 in B16-F1 cells. Cotransfected DsRed-monomer-tag Golgi marker galactosyl-transferase (GalT) with GFP-tag mutant-type or wild-type ABCB6 into B16-F1 cell, respectively. Golgi body is indicated by red color. Nuclei are stained with 4',6-diamidino-2-phenylindole (DAPI; blue color). Mutant-type or wild-type (WT) ABCB6 are indicated by enhanced green fluorescent protein (EGFP; green color). Arrows indicate the dendrites. Scale bar=10μm. ABCB6, ATP-binding cassette subfamily B, member 6. Journal of Investigative Dermatology 2013 133, 2221-2228DOI: (10.1038/jid.2013.145) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions