A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma

Journal of Investigative Dermatology

Volumn 111, Issue 6, 1998, Pages 1220-1223

  Suga, Yasushi ^a   Duncan, Karynne O ^b   Heald, Peter W ^b   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Disease; Genetics; Intermediate filaments; Keratin

Indexed keywords

ISOLEUCINE; KERATIN; THREONINE;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYPERKERATOSIS; ICHTHYOSIS; MOLECULAR GENETICS; MULTIGENE FAMILY; PRIORITY JOURNAL; STOP CODON; TUMOR LOCALIZATION;

EID: 0032465160     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00451.x     Document Type: Article

References (17)

1. Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation specific epidermal keratin genes. Cell 70:811-819, 1992
2. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM: A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70:821-828, 1992
3. Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Gen 54:179-190, 1994
4. Corden LD, McLean WHI: Human keratin disease: Hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307, 1996
5. Hatzfeld M, Weber K: Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal of the rod domain. J Cell Sci 99:351-362, 1991
6. Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes Ä: A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol 109:815-816, 1997
7. Joh GY, Traupe H, Metze D, et al: A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol 108:357-361, 1997
8. Kremer H, Zeeuwen P, McLean WH, et al: Ichthyosis Bullosa of Siemens is caused by mutations in the Keratin 2e gene. J Invest Dermatol 103:286-289, 1994
9. McLean WH, Morley SM, Lane EB, et al: Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J Invest Dermatol 103:277-281, 1994
10. Rieger M, Franke WW: Identification of an orthologous mammalian cytokeratin gene. J Mol Biol 204:841-856, 1988
11. Rothnagel JA, Roop DR: Analysis, diagnosis, and molecular genetics of keratin disorders. Curr Opinion Dermatol. 211-218, 1995
12. Rothnagel JA, Dominey AM, Dempsey LD, et al: Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis. Science 257:1128-1130, 1992
13. Rothnagel JA, Traupe H, Wojcik S, et al: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nature Genet 7:485-490, 1994
14. Sahn EE, Weimer CE, Garen PD: Annular epidermolytic ichthyosis: a unique phenotype. J Am Acad Dermatol 27:348-355, 1992
15. Steinert PM, Parry DAD: The conserved H1 domain of the type II keratin I chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin1/keratin 10 intermediate filaments at the two-to-four-molecule level of structure. J Biol Chem 268:2878-2887, 1993
16. Steinert PM, Marekov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure: closslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 230:435-452, 1993
17. Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E: Genetic mutations in the K1 and K10 genes of patients with epidemiolytic hyperkeratosis. J Clin Invest 93:1533-1542, 1994