Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

Journal of Investigative Dermatology

Volumn 108, Issue 3, 1997, Pages 349-353

  Stephens, Karen ^a,b   Ehrlich, Pamela ^a   Weaver, Molly ^a   Le, Rosalynda ^a   Spencer, Anne ^c   Sybert, Virginia P ^a,b,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

intermediate filaments

Indexed keywords

KERATIN;

ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LEUKOCYTE; MUTATION; PRIORITY JOURNAL; TECHNIQUE;

EID: 0031052765     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12286486     Document Type: Article

References (31)

1. Anton-Lamprecht I, Schnyder UW: Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica 164:221-235, 1982
2. Bonifas JM, Rothman AL, Epstein Jr EH: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254:1202-1204, 1991
3. Chan Y-M, Anton-Lamprecht I, Yu Q-C, Jackel A, Zabel B, Ernst P, Fuchs E: A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein, Genes Dev' 8:2574-2587, 1994
4. 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 90:7414-7418, 1993
5. Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein Jr EH: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: ΔE375. Hum Mol Genet 2:1971-1972, 1993
6. Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein Jr EH: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J Invest Dermatol 105:629-632, 1995
7. Compton JG: Epidermal disease: faulty keratin filaments take their toll. Nature Genet 6:6-7, 1994
8. Cooper DN, Youssoufian H: The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155, 1988
9. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analysis. Cell 66:1301-1311, 1991
10. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS: Prevalence of 22q11 microdeletions in Di George and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817, 1993
11. Eckerr RL, Rorke EA: The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5′ upstream sequence conservation between coexpressed epidermal keratins. DNA 7:337-345, 1988
12. Ehrlich P, Sybert VP, Spencer A, Stephens K: A common keratin 5 gene mutation in epidermolysisi bullosa simplex-Weber-Cockayne. J Invest Dermatol 104:877-879, 1995
13. Fine J-D, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, Sybert VP: Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol 24:119-135, 1091
14. Hachisuka H, Morita M, Karashima T, Sasai Y: Keratin 14 gene point mutation in the Kobner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method. Arch Dermatol Res 287:142-145, 1995
15. Hatzfeld M, Weber K: Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99:351-302, 1991
16. Kogan SC, Gitschier J: Genetic prediction of hemophilia A. In: Innis MA, Gelfand DJ, Sninsky JJ, White TJ (eds.). PCR Protocols: A Guide to Methods and Applications. Academic Press, San Diego, 1990, pp 288-299
17. Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AHM, Ishida-Yamamoto A, Eady RAJ: A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356:244-246, 1992
18. Letai A, Coulombe PA, Fuchs E: Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116:1181-1195, 1992
19. Letai A, Coulombe PA, McCormick MB, 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 90:3197-3201, 1993
20. Liu Q, Sommer SS: Parameteres affecting the sensitivities of dideoxy fingerprinting and SSCP. PCR Methods Appl 4:97-108, 1994
21. McLean WHI, Morley SM, Lane EB, Eady RAJ, Griffiths WAD, Paige DG, Harper JI, Higgins C, Leigh IM: Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J Invest Dermatol 103:277-281, 1994
22. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770, 1989
23. Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishihashi Y, Roop DR: Mutations in the rod domain of keratin 2e in patient with ichthyosis bullosa of Siemens. Nature Genet 7:485-489, 1994
24. Rugg EL, McLean WHI, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJC, Navsaria HA, Leigh IM, Eady RAJ: A functional "knockout" of human keratin 14. Genes Dev 8:2563-2573, 1994
25. Steinert PM, Yang J-M, 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 197:840-848, 1993
26. Stephens K, Sybert VP, Wijsman E, Ehrlich P, Spencer A: A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol 101:240-243, 1993
27. Stephens K, Zlotogurski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP: Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. Am J Hum Genet 56:577-585, 1995
28. Tyner AL, Eichman MJ, Fuchs E: The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes. Proc Natl Acad Sci USA 82:4683-4687, 1985
29. Vasser R, Coulombe PA, Degenstein L, Albers K, Fuchs E: Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-380, 1991
30. Wilson AK, Coulombe PA, Fuchs E: The roles of K5 and K14 head, tail, and R/KLLEGE domains in keratin filament assembly in vitro. J Cell Biol 119:401-414, 1992
31. 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