Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Haris Mirza, Anil Kumar, Brittany G Craiglow, Jing Zhou, Corey Saraceni, Richard Torbeck, Bruce Ragsdale, Paul Rehder, Annamari Ranki, Keith A Choate

ABSTRACT

Epidermolytic ichthyosis (EI) due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalized erythema and cutaneous blistering at birth followed by hyperkeratosis and less frequent blistering later in life. We identified two KRT10 mutations p.Q434del and p.R441P in subjects presenting with a mild EI phenotype. Both occur within the mutational "hot spot" of the keratin 10 (K10) 2B rod domain, adjacent to severe EI-associated mutations. p.Q434del and p.R441P formed collapsed K10 fibers rather than aggregates characteristic of severe EI KRT10 mutations such as p.R156C. Upon differentiation, keratinocytes from p.Q434del showed significantly lower apoptosis (P-value<0.01) compared with p.R156C as assessed by the TUNEL assay. Conversely, the mitotic index of the p.Q434del epidermis was significantly higher compared with that of p.R156C (P-value<0.01) as estimated by the Ki67 assay. Structural basis of EI phenotype variation was investigated by homology-based modeling of wild-type and mutant K1-K10 dimers. Both mild EI mutations were found to affect the surface-exposed residues of the K10 alpha helix coiled-coil and caused localized disorganization of the K1-K10 heterodimer. In contrast, adjacent severe EI mutations disrupt key intermolecular dimer interactions. Our findings provide structural insights into phenotypic variation in EI due to KRT10 mutations. More... »

PAGES

3041-3050

References to SciGraph publications

  • 2000-05. Reversal of epidermal hyperproliferation in psoriasis by insulin-like growth factor I receptor antisense oligonucleotides in NATURE BIOTECHNOLOGY
  • 2011-09. Consequences of Two Different Amino-Acid Substitutions at the Same Codon in KRT14 Indicate Definitive Roles of Structural Distortion in Epidermolysis Bullosa Simplex Pathogenesis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1998-06. The Relationship Between Hyperproliferation and Epidermal Thickening in a Mouse Model for BCIE in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2016-09. Ichthyosis hystrix Lambert type and Curth-Macklin type are a single entity with affected (KRT1 mutation) or unaffected (KRT10 mutation) palms and soles? in EUROPEAN JOURNAL OF DERMATOLOGY
  • 2009-01. Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1994-03. Epidermolytic Hyperkeratosis: Applied Molecular Genetics in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2006-04. Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2003-03. Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis Bullosa Simplex Patients in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1994-11. Genetic Bases of Epidermolysis Bullosa Simplex and Epidermolytic Hyperkeratosis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2001-06. A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1993-12. Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-07. Structural basis for heteromeric assembly and perinuclear organization of keratin filaments in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2014. Genetic Diseases/Gene Regulation/ Gene Therapy in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1990-06. Altered keratin expression in ichthyosis hystrix Curth-Macklin in ARCHIVES OF DERMATOLOGICAL RESEARCH
  • 2007-03. Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/jid.2015.284

    DOI

    http://dx.doi.org/10.1038/jid.2015.284

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26176760


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