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A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,

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Presentation on theme: "A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,"— Presentation transcript:

1 A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto, Muhammad Farooq, Hiroki Fujikawa, Asuka Inoue, Manabu Ohyama, Ritsuko Ehama, Jotaro Nakanishi, Motofumi Hagihara, Tokuro Iwabuchi, Junken Aoki, Masaaki Ito, Yutaka Shimomura  Journal of Investigative Dermatology  Volume 132, Issue 10, Pages (October 2012) DOI: /jid Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 A Japanese family with autosomal-dominant wooly hair (ADWH)/hypotrichosis. (a) Family pedigree. (b, c) Clinical features of affected individual III-1. Note that her scalp hairs are short, sparse, and tightly curled. Her eyebrows are also sparse. (d) SEM observation of a hair shaft from affected individual III-1. A longitudinal groove is indicated by the white arrow. (e) SEM observation of a hair shaft of an age-matched healthy Japanese individual. SEM, scanning electron microscopy. (d, e) Bars=14.2μm. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Identification of heterozygous missense mutation in the keratin K71 (KRT71) gene. (a) Physical map of the four inner root sheath (IRS)-specific type II keratin genes KRT71–KRT74 on human chromosome 12q13. The position and direction of the genes are indicated by arrows. The KRT71 gene is colored in red. The expression patterns of these genes in the IRS are stated below the genes: IRS-cu, IRS-cuticle; Hu, Huxley layer; He, Henle layer. (b) Identification of a heterozygous mutation c.422T>G (p.Phe141Cys) in exon 1 of the KRT71 gene of the affected individual III-1. (c) Screening assays for the KRT71 mutation with the restriction enzyme HhaI. PCR products from the mutant allele, 682bp in size, were digested into 516 and 166bp fragments. Affected individuals (II-1 and III-1) are colored in red. C, control individuals; MWM, molecular weight markers. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Mutation p.Phe141Cys occurred within the highly conserved helix initiation motif (HIM) of K71 protein. (a) Schematic representation of K71 protein. The location of mutation p.Phe141Cys in human K71 is shown above the scheme and is indicated in red. The sites of all K71 mutations identified in the other species are shown below the scheme. Of these, mutations in the Rco3 mice and the Re cats are recessively inherited, whereas all the others are dominant mutations. The HIM and HTM are colored in yellow and blue, respectively. Ca, Caracul; Cal4, Caracul-like 4; Rco, reduced coat; Re, Rex. Rgsc689 is a chemically induced mutation (Kikkawa et al., 2003). (b) Multiple amino-acid sequence alignment of the HIM of human type II keratins. K71 (K6irs1) is indicated in red. The Phe residue at amino-acid position 12 in the HIM is highlighted in green. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Mutant K71 protein disrupts endogenous keratin intermediate filament (KIF) formation in HaCaT cells, and K71 colocalizes with PA-PLA1α in the inner root sheath (IRS) of human hair follicle (HF). (a–c) Ectopically expressed wild-type (Wt)-K71 protein forms a KIF network via heterodimerization with endogenous K14 protein. (d–f) The p.Phe141Cys mutant (Mut)-K71 protein causes a collapse of the endogenous KIF network around the nucleus. (g–i) Double IIF studies with anti-K71 and anti-PA-PLA1α antibodies showed that both K71 and PA-PLA1α proteins were co-expressed in the IRS of human HF. (h) Expression of PA-PLA1α was also weakly detected in the hair shaft. (c, f, i) Counterstaining with 4′,6-diamidino-2-phenylindole (DAPI) is shown in blue. Bars=(a) 20μm and (g) 100μm. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

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