Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

Experimental Dermatology

Volumn 9, Issue 3, 2000, Pages 170-177

  Smith, F J D ^a   Fisher, M P ^b   Healy, E ^c   Rees, J L ^c   Bonifas, J M ^b   Epstein Jr , E H ^b   Tan, E M L ^d   Uitto, J ^a   McLean, W H Irwin ^a,e  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Genodermatosis; Intermediate filaments; Keratin; Keratoderma; Mutation; Pachyonychia congenita

Indexed keywords

ETRETIN; KERATIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; ECTODERMAL DYSPLASIA; GENE DELETION; GENODERMATOSIS; HUMAN; HYPERKERATOSIS; INTERMEDIATE FILAMENT; KERATOSIS PALMOPLANTARIS; MALE; MISSENSE MUTATION; MOUTH LESION; NAIL DYSTROPHY; PACHYONYCHIA CONGENITA TYPE 1; PROTEIN EXPRESSION;

BASE SEQUENCE; DNA PRIMERS; DNA, COMPLEMENTARY; ECTODERMAL DYSPLASIA; FEMALE; GENE EXPRESSION; GENES, DOMINANT; HUMANS; KERATINS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE DELETION;

EID: 0034100522     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2000.009003170.x     Document Type: Article

References (46)

1. Lane E B. Keratins. Connective Tissue and its Heritable Disorders. In: Royce, P M and Steinmann, B, eds., Molecular, Genetic and Medical Aspects. New York: Wiley-Liss Inc. 1993: 237-247.
2. Vassar R, Coulombe P A, Degenstein L, Albers K, Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 1991: 64: 365-380.
3. Corden L D, McLean W H I. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 1996: 5: 297-307.
4. Irvine A D, McLean W H I. Human keratin diseases: increasing spectrum of disease and subtlety of phenotype-genotype correlation. Br J Dermatol 1999: 140: 815-828.
5. Quinlan R A, Hutchison C J, Lane E B. Intermediate Filaments. London: Academic Press, 1994.
6. Lu X, Lane E B. Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation. Cell 1990: 62: 681-696.
7. Steinert P M. The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem 1990: 265: 8766-8774.
8. Hatzfeld M, Weber K. The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: Use of site-specific mutagenesis and recombinant protein expression. J Cell Biol 1990: 110: 1199-1210.
9. Letai A, Coulombe P A, Fuchs E. Do the ends justify the means? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 1992: 116: 1181-1195.
10. Geisler N, Heimburg T, Schünemann J, Weber K. Peptides from the conserved ends of the rod domain of desmin disassemble intermediate filaments and reveal unexpected structural features: a circular dichroism, fourier transform infrared, and electron microscopic study. J Struct Biol 1993: 110: 205-214.
11. McLean W H I, Lane E B. Intermediate filaments in disease. Curr Opin Cell Biol 1995: 7: 118-125.
12. Anton-Lamprecht I, Schnyder U W. Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica 1982: 164: 221-235.
13. Ishida-Yamamoto A, McGrath J A, Chapman S J, Leigh I M, Lane E B, Eady R A J. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14. J Invest Dermatol 1991: 97: 959-968.
14. Lane E B, Rugg E L, Navsaria H et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 1992: 356: 244-246.
15. Rugg E L, Morley S M, Smith F J D et al. Missing Links: Keratin mutations in Weber-Cockayne EBS families implicate the central L12 linker domain in effective cytoskeleton function. Nat Genet 1993: 5: 294-300.
16. Chan Y-M, Yu Q-C, Fine J-D, Fuchs E. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci (USA) 1993: 90: 7414-7418.
17. Uttam J, Hutton E, Coulombe P A et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci (USA) 1996: 93: 9079-9084.
18. Müller F B, Küster W, Bruckner-Tuderman L, Korge B P. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol 1998: 111: 900-902.
19. Irvine A D, Corden L D, Swensson O et al. Mutations in cornea-specific keratins K3 or K12 cause Meesmann's corneal dystrophy. Nat Genet 1997: 16: 184-187.
20. Ku N O, Wright T L, Terrault N A, Gish R, Omary M B. Mutation of human keratin 18 in association with cryptogenic cirrhosis. J Clin Invest 1997: 99: 19-23.
21. Winter H, Rogers M A, Langbein L et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997: 16: 372-374.
22. Winter H, Rogers M A, Gebhardt M et al. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997: 101: 165-169.
23. Smith F J D, Jonkman M F, van Goor H et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Molec Genet 1998: 7: 1143-1148.
24. Korge B P, Healy E, Munro C S et al. A mutational hotspot in the 2B domain of the human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 1998: 111: 896-899.
25. Stevens H P, Kelsell D P, Bryant S P et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol 1996: 132: 640-651.
26. Gorlin R J, Pindborg J J, Cohen M M, Jr. Syndromes of the Head and Neck. New York: McGraw-Hill, 1976.
27. Jadassohn J, Lewandowsky F. Pachyonychia congenita. In: Jacobs Ikonographia Dermatologica., Berlin: Urban and Schwarzenberg, 1906: 1: 29.
28. Jackson A D M, Lawler S D. Pachyonychia congenita: a report of six cases in one family. Ann Eugen 1951: 16: 142-146.
29. Lane E B, Bartek J, Purkis P E, Leigh I M. Keratin antigens in differentiating skin. In: Wang E, Fischman D, Liem R K, Sun T-T, eds. Intermediate Filaments. New York: New York Academy of Sciences. 1985: 455: 241-258.
30. Purkis P E, Steel J B, Mackenzie I C, Nathrath W B J, Leigh I M, Lane E B. Antibody markers of basal cells in complex epithelia. J Cell Sci 1990: 97: 39-50.
31. McLean W H I, Rugg E L, Lunny D P et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995: 9: 273-278.
32. Shamsher M K, Navsaria H A, Stevens H P et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in 2 families. Hum Mol Genet 1995: 4: 1875-1881.
33. Bowden P E, Haley J L, Kansky A, Rothnagel J A, Jones D O, Turner R J. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995: 10: 363-365.
34. Smith F J D, McKenna K E, Irvine A D et al. A mutation detection strategy for the human K6A gene and novel mutations in two cases of pachyonychia congenita type 1. Exp Dermatol 1999: 8: 109-114.
35. Smith F J D, Corden L D, Rugg E L et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 1997: 108: 220-223.
36. Smith F J D, McKusick V A, Nielsen K, Pfendner E, Uitto J, McLean W H I. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenatal Diagnosis 1999: in press.
37. Antonarakis S E. Recommendations for a nomenclature System for human gene mutations. Nomenclature Working Group. Hum Mutat 1998: 11: 1-3.
38. RayChaudhury A, Marchuk D, Lindhurst M, Fuchs E. Three tightly linked genes encoding human type I keratins: Conservation of sequence in the 5′-untranslated leader and 5′-upstream regions of coexpressed keratin genes. Mol Cell Biol 1986: 6: 539-548.
39. Rosenberg M, RayChaudhury A, Shows T, Le Beau M M, Fuchs E. A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol 1988: 8: 722-736.
40. Paladini R D, Takahashi K, Gant T M, Coulombe P A. cDNA cloning and bacterial expression of the human type I keratin 16. Biochem Biophys Res Comm 1995: 215: 517-523.
41. Dodemont H, Riemer D, Ledger N, Weber K. Eight genes and alternative RNA processing pathways generate an unexpectedly large diversity of cytoplasmic intermediate filament proteins in the nematode Caenorhabditis elegans. EMBO J 1994: 13: 2625-2638.
42. Dodemont H, Riemer D, Weber K. Structure of an invertebrate gene encoding cytoplasmic intermediate filament (IF) proteins: implications for the origin and the diversification of IF proteins. EMBO J 1990: 9: 4083-4094.
43. Letai A, Coulombe P A, McCormick M B, Yu Q C, Hutton E, Fuchs E. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci (USA) 1993: 90: 3197-3201.
44. Steinert P M, Marekov L N, Fraser R D B, Parry D A D. Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Molec Biol 1993: 230: 436-452.
45. Coulombe P A, Hutton M E, Letai A, Hebert A, Paller A S, Fuchs E. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysis. Cell 1991: 66: 1301-1311.
46. Covello S P, Smith F J D, Sillevis Smitt J H et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol 1998: 139: 475-480.