Keratin 14
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. [1] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.[2][3][4]
Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.
Pathology
Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.[5]
See also
- 34βE12 (keratin 903)
References
- ↑ Hanukoglu, I.; Fuchs, E. (Nov 1982). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.". Cell 31 (1): 243–52. doi:10.1016/0092-8674(82)90424-X. PMID 6186381.
- ↑ Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (Oct 1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell 66 (6): 1301–11. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157.
- ↑ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
- ↑ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)".
- ↑ Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E (2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". Am. J. Hum. Genet. 79 (4): 724–30. doi:10.1086/507792. PMC 1592572. PMID 16960809.
Further reading
- Schuilenga-Hut PH, Vlies P, Jonkman MF et al. (2003). "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations". Hum. Mutat. 21 (4): 447. doi:10.1002/humu.9124. PMID 12655565.
- Rosenberg M, Fuchs E, Le Beau MM et al. (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33–8. doi:10.1159/000133109. PMID 1713141.
- Bonifas JM, Rothman AL, Epstein EH (1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science 254 (5035): 1202–5. doi:10.1126/science.1720261. PMID 1720261.
- Albers K, Fuchs E (1987). "The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines". J. Cell Biol. 105 (2): 791–806. doi:10.1083/jcb.105.2.791. PMC 2114764. PMID 2442174.
- Rosenberg M, RayChaudhury A, Shows TB et al. (1988). "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722–36. PMC 363198. PMID 2451124.
- Marchuk D, McCrohon S, Fuchs E (1985). "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene". Proc. Natl. Acad. Sci. U.S.A. 82 (6): 1609–13. doi:10.1073/pnas.82.6.1609. PMC 397321. PMID 2580298.
- Hanukoglu I, Fuchs E (1983). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell 31 (1): 243–52. doi:10.1016/0092-8674(82)90424-X. PMID 6186381.
- Marchuk D, McCrohon S, Fuchs E (1985). "Remarkable conservation of structure among intermediate filament genes". Cell 39 (3 Pt 2): 491–8. doi:10.1016/0092-8674(84)90456-2. PMID 6210150.
- Rugg EL, Morley SM, Smith FJ et al. (1994). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nat. Genet. 5 (3): 294–300. doi:10.1038/ng1193-294. PMID 7506097.
- Chen MA, Bonifas JM, Matsumura K et al. (1994). "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375". Hum. Mol. Genet. 2 (11): 1971–2. doi:10.1093/hmg/2.11.1971. PMID 7506606.
- Chan Y, Anton-Lamprecht I, Yu QC et al. (1994). "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 (21): 2574–87. doi:10.1101/gad.8.21.2574. PMID 7525408.
- Yamanishi K, Matsuki M, Konishi K, Yasuno H (1995). "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 (7): 1171–2. doi:10.1093/hmg/3.7.1171. PMID 7526926.
- Hovnanian A, Pollack E, Hilal L et al. (1995). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nat. Genet. 3 (4): 327–32. doi:10.1038/ng0493-327. PMID 7526933.
- Chen H, Bonifas JM, Matsumura K et al. (1995). "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex". J. Invest. Dermatol. 105 (4): 629–32. doi:10.1111/1523-1747.ep12323846. PMID 7561171.
- Humphries MM, Sheils DM, Farrar GJ et al. (1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex". Hum. Mutat. 2 (1): 37–42. doi:10.1002/humu.1380020107. PMID 7682883.
- Stephens K, Sybert VP, Wijsman EM et al. (1993). "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis". J. Invest. Dermatol. 101 (2): 240–3. doi:10.1111/1523-1747.ep12365079. PMID 7688405.
- Chan YM, Cheng J, Gedde-Dahl T et al. (1996). "Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex". J. Invest. Dermatol. 106 (2): 327–34. doi:10.1111/1523-1747.ep12342985. PMID 8601736.
- Paladini RD, Takahashi K, Bravo NS, Coulombe PA (1996). "Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16". J. Cell Biol. 132 (3): 381–97. doi:10.1083/jcb.132.3.381. PMC 2120730. PMID 8636216.
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