An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis

Journal of Investigative Dermatology

Volumn 109, Issue 5, 1997, Pages 692-694

  Yang, Jun Mo ^a,b,f   Yoneda, Kozo ^c   Morita, Eishin ^d   Imamura, Sadao ^c   Nam, Kiebang ^b   Lee, Eil Soo ^a   Steinert, Peter M ^e  

^a Sungkyunkwan University   (South Korea)

^b Samsung Medical Center   (South Korea)

^c KYOTO UNIVERSITY   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^f Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Keratin intermediate filament structure; Type I keratin

Indexed keywords

KERATIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; FAMILY HISTORY; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPERKERATOSIS; MALE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN CONFORMATION;

EID: 0030669237     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12338320     Document Type: Article

References (23)

1. Bale SJ, Compton JA, DiGiovanna JJ: Epidermolytic hyperkeratosis. Arch Dermatol 12:202-208, 1993
2. Cheng J, Snyder AJ, Yu Q-C, Letai A, Paller AS, Fuchs E: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiaiton-specific genes. Cell 70:811 819, 1992
3. 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 70:821-823, 1992
4. Chipev CC, Yang J-M, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Genet 54:179-190, 1994
5. Chipev CC, Steinert PM, Woodworth CD: Characterization of an immortalized cell line from a patient with epidermolytic hyperkeratosis. J Invest Dermatol 106:385-390, 1996
6. Compton JA: Epidermal diseases: faulty keratin filaments take their toll. Nature Genetics 6:6-7, 1994
7. DiGiovanna JJ, Bale SJ: Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 130:1026-1035, 1994a
8. DiGiovanna JJ, Bale SJ: Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol 102:390-394, 1994b
9. Fuchs E: The cytoskeleton and disease: genetic disorders of intermediate filaments. Annu Rev Genet 30:197-231, 1996
10. Fuchs E, Weber K: Intermediate filaments: Structure, dynamics, function and disease. Ann Rev Biochem 63:345-382, 1994
11. Huber M, Scaletta C, Benathan M, et al: Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutation. J invest Dermatol 102:691-694, 1994
12. Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane E, Eady RAJ: Selective involvement of keratins K1 and K10 in the cytoskeletal abnomality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Inves Dermatol 99:19-26, 1992
13. Korge BP, Krieg T: The molecular basis for inherited bullous diseases. J Mol Med 74:59-70, 1996
14. McLean WHI, Lane EB: Intermediate filaments in disease. Curr Opin Cell Biol 7:118-125, 1995
15. Parry DAD, Steinert PM: Intermediate Filament Structure, RG Landis, Austin, TX, 1995
16. Rothnagel JA, Dominey AM, Dempsey LD: Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis. Science 257:1128-1130, 1992
17. Steinert PM: Structure, function and dynamics of keratin intermediate filaments. J Invest Dermatol 100:729-734, 1993
18. Steinert PM, Idler WW, Zimmerman SB: Self-assembly of bovine epidermal keratin filaments in vitro. J Med Biol 108:547-567, 1976
19. Steinert PM, Marekov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure: crosslinking studies reveal quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 230:436-452, 1993a
20. Steinert PM, Yang J-M, Bale SJ, Compton JG: Concurrence between the molecular overlap regions in keratin intermediate filaments and the location of keratin mutations in genodermatoses. Biochem Biophys Res Commun 197:840-848, 1993b
21. Steinert PM, Bale SJ, Compton JG, DiGiovanna JJ, McLean WHI: The diseases of intermediate filaments. FASEB J 1997, in press
22. Yang J-M, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol 102:17-23, 1994
23. Yang J-M, Nam K, Park K-B, et al: A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol 107:439-441, 1996