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An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology.

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Presentation on theme: "An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology."— Presentation transcript:

1 An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae  Hermelita Winter, Daniel Schissel, David A.D. Parry, Thomasin A. Smith, Mirjana Liovic, E. Birgitte Lane, Lutz Edler, Lutz Langbein, Luis F. Jave-Suarez, Michael A. Rogers, Joseph Wilde, Gerald Peters, Jürgen Schweizer  Journal of Investigative Dermatology  Volume 122, Issue 3, Pages (March 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pseudofolliculitis barbae of a black individual. Note the numerous papules and pustules in the submental and submandibular skin. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 (a) Pedigree of the pseudofolliculitis barbae family. Affected individuals are indicated by solid symbols (I-2, deceased individual), and unaffected members are marked by open symbols. Individuals from whom genomic DNA was obtained are denoted by an asterisk. (b, c) Mutation analysis of the K6hf gene. (b) DNA sequence excerpt of the unaffected individual II-3; (c) DNA sequence excerpt of the affected individual II-2, showing a heterozygous G–A transition (arrows in b and c). Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Computer-generated K6hf/K17 1A segments as helix representations. View of the constructed K17/K6hf 1A dimer, shown as a backbone α-carbon trace only. The K17/K6hfAla12Thr model is shown in red and is superimposed on the initial model, shown in blue. The location of the mutated residue Ala12Thr is labeled. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 PtK2 cells transiently transfected with K6hf and K17 expression vectors. (a–c) Cells fixed and stained (K6hf-specific guinea pig polyclonal primary antibody and Alexa Fluor 488 goat anti-guinea pig IgG (H+L) as secondary antibody) at the 48 h post-transfection time point. (a) Cells transfected with K6hfWT/K17. (b, c) Cells transfected with K6hfAla12Thr/K17. Note the fully extended IF network in a, compared with the formation of both a rudimentary IF system, collapsed around the nuclei and aggregates spread across the cells in b and c. N, nucleus. Scale bar=35 μm. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

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