A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma

Journal of Investigative Dermatology

Volumn 109, Issue 1, 1997, Pages 113-115

  Endo, Hideharu ^a   Hatamochi, Atsushi ^a   Shinkai, Hiroshi ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Helix initiation motif; Keratin intermediate filament

Indexed keywords

KERATIN; LEUCINE; VALINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; GENE MUTATION; HUMAN; HYPERKERATOSIS; INTERMEDIATE FILAMENT; KERATINIZATION; KERATOSIS PALMOPLANTARIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0030738735     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12276751     Document Type: Article

References (20)

1. Bonifas JM, Matsumura K, Chen MA, Berth JJ, Hutchison PE, Zloczower M, Fritsch PO, Epstein EJ: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J Invest Dermatol 103:474-477, 1994
2. Compton JG: Epidermal disease: faulty keratin filaments take their toll. Nat Genet 6:6-7, 1994
3. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-1680, 1992
4. Hatzfeld M, Weber K: A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments. J Cell Biol 116:157-166, 1992
5. Hennies HC, Zehender D, Kunze J, Kuster W, Reis A: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 93:649-654, 1994
6. Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S: Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. FEBS Lett 386:149-155, 1996
7. Langbein L, Heid HW, Moll I, Franke WW: Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 55:57-72, 1994
8. McCormick MB, Kouklis P, Syder A, Fuchs E: The roles of the rod end and the tail in vimentin IF assembly and IF network formation. J Cell Biol 122:395-407, 1993
9. Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM: Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol 104:425-429, 1995
10. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S: Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes. Hemoglobin 6:27-36, 1982
11. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Scbröck E, Rover PB, Franke WW, Sperling K, Küster W: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 6:174-179, 1994
12. Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J Invest Dermatol 104:430-433, 1995
13. Steinert PM: The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem 265:8766-8774, 1990
14. Steinert PM: Structure, function, and dynamics of keratin intermediate filaments. J Invest Dermatol 100:729-734, 1993
15. Steinert PM, Marekov LN, Fraser RD, Parry DA: Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 230:436-452, 1993a
16. Steinert PM, Marekov LN, Parry DA: Conservation of the structure of keratin intermediate filaments: molecular mechanism by which different keratin molecules integrate into preexisting keratin intermediate filaments during differentiation. Biochemistry 32:10046-10056, 1993b
17. Steinert PM, North AC, Parry DA: Structural features of keratin intermediate filaments. J Invest Dermatol 103:195-245, 1994
18. Steinert PM, Yang JM, Bale SJ, Compton JG: Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun 197:8-40-848, 1993c
19. Torchard D, Blanchet BC, Serova O, Langbein L, Narod S, Janin N, Goguel AF, Bernheim A, Franke WW, Lenoir GM, Feunteun J: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat Genet 6:106-110, 1994
20. Yamanishi K, Matsuki M, Konishi K, Yasuno H: A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum Mol Genet 3:1171-1172, 1994