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Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean 

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1 Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma 
Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean  Journal of Investigative Dermatology  Volume 118, Issue 5, Pages (May 2002) DOI: /j x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigree of the family with autosomal dominant SPPK analyzed in this study. There are 14 affected individuals and 20 unaffected individuals. The proband is indicated by the arrow. Asterisks indicate individuals taking part in this study. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Clinical appearance of the SPPK family. (a) The affected proband and his two sons show focal keratoderma on the palms and some linear hyperkeratosis along the fingers. (b) The proband shows focal hyperkeratosis on the soles. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Electron microscopy analysis of palmoplantar epidermis. Electron microscopy reveals normal keratin intermediate filaments in the basal keratinocytes (B), whereas those of the suprabasal keratinocytes (SB) are less electron dense. Arrow indicates the basement membrane. Scale bar: 2 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Characterization of the K1 mutation. Nucleotide sequencing of the proband DNA reveals the heterozygous deletion 1628delG (indicated by the arrow) in exon 9 of KRT1. Nucleotide sequencing of the proband cDNA also reveals heterozygosity at this nucleotide position, thus demonstrating that the mutant allele is not degraded via the nonsense mediated mRNA decay pathway. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

6 Figure 5 Position and effect of the 1628delG mutation. (a) Position of the frameshift mutation within the V2 domain of K1. (b) Comparison of the amino acid sequence of the V2 domain of K1 for wild-type, 1628delG, and 1609GG→A (Sprecher et al, 2001). The predicted glycine loop motifs are numbered and the aromatic/aliphatic amino acids are underlined. The novel C-terminal amino acid sequences are in bold. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

7 Figure 6 Site-directed mutagenesis constructs. (a) Wild-type; (b) 1628delG; (c) 1609 GG→A; (d) 1540 G→T; (e) 1624 G→T. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

8 Figure 7 K1-GFP expression studies. Wild-type staining is filamentous (a), whereas the staining is largely nuclear for the mutants 1628delG (b), 1609GG→A (c), 1540G→T (d), and 1624 G→T (e). Scale bar: 7 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

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