Abstract
Genetic polymorphism of keratins at the protein level due to allelic variation has been described for Kl, K4, K5, and K10. In order to understand the molecular basis of the differences among the alleles of these genes, we have analyzed their N- and C-terminal domains following amplification of genomic DNA by the polymerase chain reaction. Whereas the Kl and the K10 alleles differ in size of their carboxyl-terminal V2 subdomains, the alleles of the K4 and K5 genes diverge in their amino-terminal domains.
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References
Barletta C, Batticane N, Ragusa RM, Leube R, Peschle C and Romano V. Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization. Cytogenet Cell Genet 1990, 54: 148–50
Bonifas JM, Rothman AL, and Epstein EH. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities. Science 1991, 254: 1202–5
Cheng J, Syder M, Yu Q-C, Letai A, Palier AS and Fuchs E. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes. Cell 1992, 70: 811–9
Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG and Steinert PM. A leucine > proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyper-keratosis. Cell 1992, 70: 821–8
Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, Korge BP, McBride OW, Steinert PM and Bale SJ. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics 1992, 1: 301–5
Coulombe PA, Hutton ME, Letai A, Hebert A, Palter AS, and Fuchs E. Point mutations in human keratin 14 genes of Epidermolysis bullosa simplex patients: Genetic and functional analyses. Cell 1991, 66: 1301–11
Eckert RL and 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 1988, 7: 337–45
Fuchs E. Keratins as biochemical markers of epithelial differentiation. Trends Genetics 1988, 4: 277–81
Hatzfeld M and 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 1990, 110: 1199–210
Herrmann H, Hofmann I and Franke WW. Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly. J Mol Biol 1992, 223: 637–50
Johnson LD, Idler WW, Zhou X-M, Roop DR and Steinert PM. Structure of a gene for the human epidermal keratin of 67 000 Dalton. Proc Natl Acad Sci USA 1985, 82: 1896–1900
Korge BP, Gan S-Q, McBride OW, Mischke D, and Steinert PM. Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. Proc Natl Acad Sci USA 1992a, 89: 910–914
Korge BP, Compton JG, Steinert PM, and Mischke D. The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain. J Invest Dermatol 1992b, 99: 697–702
Lane EB, Rugg EL, Naysaria H, Leigh IM, Heagerty AHM, Ishida-Yamamoto A, and Eady RAJ. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 1992, 356: 244–246
Lersch R and Fuchs E. Sequence and expression of a type II keratin, K5, in human epidermal cells. Mol Cell Biol 1988, 8: 486–493
Lessin RS, Hübner K, Isobe M, Croce CM, and Steinert PM. Chromosomal mapping of human keratin genes: Evidence of non-linkage. J Invest Dermatol 1988, 91: 572–578
Leube R, Bader BL, Bosch FX, Zimbelmann R, Achtstaetter T, and Franke WW. Molecular characterization and expression of the stratification-related cytokeratins 4 and 15. J Cell Biol 1988, 106: 1249–1261
Maniatis T, Fritsch EF, and Sambrook J. Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory, New York, 1982
Mischke D and Wild G. Polymorphic keratins in human epidermis. J Invest Dermatol 1987, 88: 191–197
Mischke D, Wille G, and Wild AG. Allele frequencies and segregation of human polymorphic keratins K4 and K5. Am J Hum Genet 1990, 46: 548–552
Mischke, D. Frequencies of human keratin 10 alleles. Hum Molec Biol 1993, 2: 618
Moll R, Franke WW, Schiller DL, Geiger B, and Krepler R. The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell 1982, 31: 1–24
Orita M, Suzuki TS, and Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989, 5: 874–879
Oshima RG. Intermediate filament molecular biology. Curr Opin Cell Biol 1992, 4: 110–116
Parry DAD and Steinert PM. Intermediate filament structure. Curr Opin Cell Biol 1992, 4: 94–98
Reis A, Küster W, Eckhardt R, and Sperling K. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12–21. Hum Genet 1992, 90: 113–116
Rieger M and Franke WW. Identification of an orthologous mammalian cytokeratin gene. J Mol Biol 1988, 204: 841–856
Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, and Shows TB. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet Cell Genet 1991, 57: 33–38
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhaigh DA, Gagne TA, Huber M, Frenk E, Hohl D, and Roop DR. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992, 257: 1128–1139
Steinert PM and Roop DR. Molecular and cellular biology of intermediate filaments. Annu Rev Biochem 1988, 57: 593–625
Steinert PM, Mack JW, Korge BP, Gan S-Q, Haynes SR, and Steven AC. Glycine loops in proteins: their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins. Int J Biol Macromol 1991, 13: 130–139
Sun T-T, Eichner R, Schermer A, Cooper D, Nelson WG, and Weiss RA. Classification, expression, and possible mechanisms of evolution of mammalian epithelial keratins: a unifying model. In: Levine A, Topp W, Vande Woude G, Watson JD (eds) Cancer Cells 1: The transformed phenotype. Cold Spring Harbor Laboratory, New York, 1984, pp 169–176
Wanner R, Förster H-H, Tilmans I, and Mischke D. Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. J Invest Dermatol 1993, 100: 735–741
Wild G-A and Mischke D. Variation and frequency of cytokeratin polypeptide patterns in human squamous non-keratinizing epithelium. Exp Cell Res 1986, 162: 114–126
Zhou X-M, Idler WW, Steven AC, Roop DR, and Steinert PM. The sequence and structure of human keratin 10: organization and possible structures of end sequences. J Biol Chem 1988, 263: 15584–15589
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© 1994 Springer Science+Business Media New York
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Mischke, D., Wanner, R., Korge, B.P. (1994). Polymorphic Keratins as Detected by PCR and SSCP. In: Rolfs, A., Weber-Rolfs, I., Finckh, U. (eds) Methods in DNA Amplification. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2530-1_4
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DOI: https://doi.org/10.1007/978-1-4615-2530-1_4
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