Keratin 16
Appearance
(Redirected from Keratin 16 mosaicism)
Keratin 16 is a protein that in humans is encoded by the KRT16 gene.[5][6][7]
Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues, including nail bed, esophagus, tongue, and hair follicles. Mutations in the gene encoding this protein are associated with the genetic skin disorders including pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.[8]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000186832 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053797 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (February 1988). "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722–36. doi:10.1128/mcb.8.2.722. PMC 363198. PMID 2451124.
- ^ Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (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.
- ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
- ^ Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S (October 1995). "Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families". Hum. Mol. Genet. 4 (10): 1875–81. doi:10.1093/hmg/4.10.1875. PMID 8595410.
External links
[edit]Further reading
[edit]- Liao H, Sayers JM, Wilson NJ, et al. (2007). "A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita". J. Dermatol. Sci. 48 (3): 199–205. doi:10.1016/j.jdermsci.2007.07.003. PMID 17719747.
- Barcelos AC, Sotto MN (2009). "Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions". J. Cutan. Pathol. 36 (6): 647–54. doi:10.1111/j.1600-0560.2008.01127.x. PMID 19515043. S2CID 205816580.
- Wang YN, Chang WC (2003). "Induction of disease-associated keratin 16 gene expression by epidermal growth factor is regulated through cooperation of transcription factors Sp1 and c-Jun". J. Biol. Chem. 278 (46): 45848–57. doi:10.1074/jbc.M302630200. PMID 12954631.
- Bai ZL, Feng YG, Tan SS, et al. (2008). "Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families". Br. J. Dermatol. 159 (1): 238–40. doi:10.1111/j.1365-2133.2008.08603.x. PMID 18489596. S2CID 32875094.
- Harris RA, Yang A, Stein RC, et al. (2002). "Cluster analysis of an extensive human breast cancer cell line protein expression map database". Proteomics. 2 (2): 212–23. doi:10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H. PMID 11840567. S2CID 44946014.
- van Lingen RG, Poll MK, Seyger MM, et al. (2008). "Distribution of dipeptidyl-peptidase IV on keratinocytes in the margin zone of a psoriatic lesion: a comparison with hyperproliferation and aberrant differentiation markers". Arch. Dermatol. Res. 300 (10): 561–7. doi:10.1007/s00403-008-0862-1. PMID 18496701.
- Nishizawa M, Izawa I, Inoko A, et al. (2005). "Identification of trichoplein, a novel keratin filament-binding protein". J. Cell Sci. 118 (Pt 5): 1081–90. doi:10.1242/jcs.01667. PMID 15731013.
- Bhawan J, Bansal C, Whren K, et al. (2004). "K16 expression in uninvolved psoriatic skin: a possible marker of pre-clinical psoriasis". J. Cutan. Pathol. 31 (7): 471–6. doi:10.1111/j.0303-6987.2004.0220.x. PMID 15239676. S2CID 20099397.
- Terrinoni A, Puddu P, Didona B, et al. (2000). "A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus". J. Invest. Dermatol. 114 (6): 1136–40. doi:10.1046/j.1523-1747.2000.00983.x. PMID 10844556.
- Ito Y, Kurokawa I, Nishimura K, et al. (2008). "Keratin and filaggrin expression in keratoacanthoma". J Eur Acad Dermatol Venereol. 22 (3): 353–5. doi:10.1111/j.1468-3083.2007.02440.x. PMID 18005116. S2CID 37712127.
- Smith FJ, Fisher MP, Healy E, et al. (2000). "Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma". Exp. Dermatol. 9 (3): 170–7. doi:10.1034/j.1600-0625.2000.009003170.x. PMID 10839714. S2CID 44384231.
- Yu JQ, Zhuang H, Xiu Y, et al. (2005). "Small urine leak after renal transplantation: detection by delayed 99mTc-DTPA renography--a case report". J Nucl Med Technol. 33 (1): 31–3. PMID 15731018.
- Wu C, Li C, Wei L, Zheng Z (2008). "Innate immune modulation of keratinocytes by antikeratin 16 antibodies". Exp. Dermatol. 17 (8): 645–52. doi:10.1111/j.1600-0625.2007.00682.x. PMID 18557933. S2CID 21212353.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Terrinoni A, Smith FJ, Didona B, et al. (2001). "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita". J. Invest. Dermatol. 117 (6): 1391–6. doi:10.1046/j.0022-202x.2001.01565.x. PMID 11886499.
- Chen YJ, Wang YN, Chang WC (2007). "ERK2-mediated C-terminal serine phosphorylation of p300 is vital to the regulation of epidermal growth factor-induced keratin 16 gene expression". J. Biol. Chem. 282 (37): 27215–28. doi:10.1074/jbc.M700264200. PMID 17623675.
- Connors JB, Rahil AK, Smith FJ, et al. (2001). "Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16". Br. J. Dermatol. 144 (5): 1058–62. doi:10.1046/j.1365-2133.2001.04199.x. PMID 11359398. S2CID 22597662.