OJGen  Vol.3 No.4 , December 2013
C-type lectins and human epithelial membrane protein1: Are they new proteins in keratin disorders?
ABSTRACT

Here we report a family with a clinical spectrum of Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of chromosomal translocations on gene expression through involved breakpoints and structural gene abnormalities detected by array CGH. We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of PCT through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1). Better understanding of the molecular basis of keratin disorders is the foundation for improved diagnosis, genetic counseling and novel therapeutic approaches to overcome the current treatment limitations related to this disease.


Cite this paper
Karadeniz, N. , Liehr, T. , Mrasek, K. , Aşık, I. , Aşık, Z. , Kosyakova, N. and Mkrtchyan, H. (2013) C-type lectins and human epithelial membrane protein1: Are they new proteins in keratin disorders?. Open Journal of Genetics, 3, 262-269. doi: 10.4236/ojgen.2013.34029.
References
[1]   Lane, E.B. and McLean, W.H.I. (2004) Keratins and skin disorders. Journal of Pathology, 204, 355-366.
http://dx.doi.org/10.1002/path.1643

[2]   Shetty, S. and Gokul, S. (2012) Keratinization and its disorders. Oman Medical Journal, 27, 348-357.
http://dx.doi.org/10.5001/omj.2012.90

[3]   Paller, A.S., Moore, J.A. and Scher, R. (1991) Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. Archives of Dermatology, 127, 701-703.
http://dx.doi.org/10.1001/archderm.1991.01680040109013

[4]   Bahhady, R., Abbas, O. and Dahdah, M. (2008) Pachyonychia congenita tarda: Very late onset. International Journal of Dermatology, l47, 1172-1173.
http://dx.doi.org/10.1111/j.1365-4632.2008.03830.x

[5]   Iraci, S., Bianchi, L., Gatti, S., Carrozzo, A.M., Bettini, D. and Nini, G. (1993) Pachyonychia congenita with late onset of nail dystrophy—A new clinical entity? Clinical and Experimental Dermatology, 18, 478-480.
http://dx.doi.org/10.1111/j.1365-2230.1993.tb02257.x

[6]   Chang, A., Lucker, G.P., van de Kerkhof, P.C. and Steijlen, P.M. (1994) Pachyonychia congenita in the absence ofother syndrome abnormalities. Journal of the American Academy of Dermatology, 30, 1017-1018.
http://dx.doi.org/10.1016/S0190-9622(09)80144-8

[7]   Moon, S.E., Lee, Y.S. and Youn, J.I. (1994) Eruptive vellus hair cyst and steatocystoma multiplex in a patient with pachyonychia congenita. Journal of the American Academy of Dermatology, 30, 275-276.
http://dx.doi.org/10.1016/S0190-9622(08)81928-7

[8]   Haber, R.M. and Rose, T.H. (1986) Autosomal recessive pachyonychia congenital. Archives of Dermatology, 122, 919-923.
http://dx.doi.org/10.1001/archderm.1986.01660200091023

[9]   Mawhinney, H., Creswell, S. and Beare, J.M. (1981) Pachyonychia congenita with candidiasis. Clinical and Experimental Dermatology, 6, 145-149.
http://dx.doi.org/10.1111/j.1365-2230.1981.tb02281.x

[10]   Dutrillaux, B. and Viegas-Pequignot, E. (1981) High resolution R- and G-banding on the same preparation. Human Genetics, 57, 93-95.
http://dx.doi.org/10.1007/BF00271176

[11]   Liehr, T., Weise, A., Heller, A., Starke, H., Mrasek, K., Kuechler, A., Weier, H.U. and Claussen, U. (2002) Multicolor chromosome banding (MCB) with YAC/BACbased probes andregion-specific microdissection DNA libraries. Cytogenetic and Genome Research, 97, 43-50.
http://dx.doi.org/10.1159/000064043

[12]   UCSC Genome Browser on Human Mar2006/NCBI36/ hg18.

[13]   Liehr, T., Kuhlenbäumer, G., Wulf, P., Taylor, V., Suter, U., Van Broeckhoven, C., Lupski, J.R., Claussen, U. and Rautenstrauss, B. (1999) Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3. Genomics, 58, 106-108.
http://dx.doi.org/10.1006/geno.1999.5803

[14]   Schweizer, J., Bowden, P.E., Coulombe, P.A., Langbein, L., Lane, E.B., Magin, T.M., Maltais, L., Omary, M.B., Parry, D.A., Rogers, M.A. and Wright, M.W. (2006) New consensus nomenclature for mammalian keratins. The Journal of Cell Biology, 174, 169-174.
http://dx.doi.org/10.1083/jcb.200603161

[15]   Hesse, M., Zimek, A., Weber, K. and Magin, T.M. (2004) Comprehensive analysis of keratin gene clusters inhumans and rodents. The Journal of Cell Biology, 83, 19-26. http://dx.doi.org/10.1078/0171-9335-00354

[16]   Chamcheu, J.C., Siddiqui, I.A., Syed, D.N., Adhami, V.M., Liovic, M. and Mukhtar, H. (2011) Keratin gene mutations in disorders of human skin and its appendages. Archives of Biochemistry and Biophysics, 508, 123-137.
http://dx.doi.org/10.1016/j.abb.2010.12.019

[17]   Rugg, E.L. and Leigh, I.M. (2004) The keratins and their disorders. American Journal of Medical Genetics, Part C, 131C, 4-11. http://dx.doi.org/10.1002/ajmg.c.30029

[18]   Steinert, P.M., Yang, J.M., Bale, S.J. and Compton, J.G. (1993) Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochemical and Biophysical Research Communications, 197, 840-848.
http://dx.doi.org/10.1006/bbrc.1993.2555

[19]   Braun-Falco, M. (2009) Hereditary palmoplantar keratodermas. J DDG, 7, 971-984.

[20]   De Berker, D., Wojnarowska, F., Sviland, L., Westgate, G.E., Dawber, R.P. and Leigh, I.M. (2000) Keratin expression in the normal nail unit: markers of regional differentiation. British Journal of Dermatology, 142, 89-96. http://dx.doi.org/10.1046/j.1365-2133.2000.03246.x

[21]   Smith, F. (2003) The molecular genetics of keratin disorders. American Journal of Clinical Dermatology, 4, 347-464. http://dx.doi.org/10.2165/00128071-200304050-00005

[22]   Kelsell, D.P. and Leigh, I.M. (2008) Inheridet keratodermas of palms and soles. In: Wolf, K., Goldsmith, L.A., Katz, S.I., Gilchrest, B.A., Paller, A. and Leffell, D.J., Eds., Fitzpatrick’s Dermatology in General Medicine, Mc Graw Hill Medical, NewYork, 224.

[23]   Hannaford, R.S. and Stapleton, K. (2000) Pachyonychia congenita tarda. Australasian Journal of Dermatology, 41, 175-177.
http://dx.doi.org/10.1046/j.1440-0960.2000.00425.x

[24]   Su, W.P., Chun, S.I., Hammond, D.E. and Gordon, H. (1990) Pachyonychia congenita: A clinical study of 12 cases and review of the literature. Pediatric Dermatology, 7, 33-38.
http://dx.doi.org/10.1111/j.1525-1470.1990.tb01070.x

[25]   Itin, P.H. and Fistarol, S.K. (2005) Palmoplantar keratodermas. Clinics in Dermatology, 23, 15-22.
http://dx.doi.org/10.1016/j.clindermatol.2004.09.005

[26]   Arin, M.J. (2009) The molecular basis of human keratin disorders. Human Genetics, 1254, 355-373.
http://dx.doi.org/10.1007/s00439-009-0646-5

[27]   Bowden, P.E., Haley, J.L., Kansky, A., Rothnagel, J.A., Jones, D.O. and Turner, R.J. (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genetics, 10, 363-365.
http://dx.doi.org/10.1038/ng0795-363

[28]   McLean, W.H.I., Rugg, E.L., Lunny, D.P., Morley, S.M., Lane, E.B., Swensson, O., Dopping-Hepenstal, P.J.C., Griffiths, W.A.D., Eady, R.A.J., Higgins, C., Navsaria, H.A., Leigh, I.M., Strachan, T., Kunkeler, L. and Munro, C.S. (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics, 9, 273-278.
http://dx.doi.org/10.1038/ng0395-273

[29]   Smith, F.J.D., Jonkman, M.F., van Goor, H., Coleman, C.M., Covello, S.P., Uitto, J. and McLean, W.H. (1998) A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type2. Human Molecular Genetics, 7, 1143-1148.
http://dx.doi.org/10.1093/hmg/7.7.1143

[30]   Smith, F.J., Liao, H., Cassidy, A.J., Stewart, A., Hamill, K.J., Wood, P., Joval, I., van Steensel, M.A., Björck, E., CallifDaley, F., Pals, G., Collins, P., Leachman, S.A., Munro, C.S. and McLean, W.H. (2005) The genetic basis of pachyonychia congenita. Journal of Investigative Dermatology Symposium, 10, 21-30.
http://dx.doi.org/10.1111/j.1087-0024.2005.10204.x

[31]   Baran, R. and Haneke, E. (2006) The nail in differential diagnosis. Informa Healthcare, 51-60.

[32]   Leachman, S.A., Kaspar, R.L., Fleckman, P., Florell, S.R., Smith, F.J., McLean, W.H., Lunny, D.P., Milstone, L.M., van Steensel, M.A., Munro, C.S., O’Toole, E.A., Celebi, J.T., Kansky, A. and Lane, E.B. (2005) Clinical and pathological features of pachyonychia congenita. Journal of Investigative Dermatology Symposium, 10, 3-17.
http://dx.doi.org/10.1111/j.1087-0024.2005.10202.x

[33]   Trembath, D.G., Semina, E.V., Jones, D.H., Patil, S.R., Qian, Q., Amendt, B.A., Russo, A.F. and Murray, J.C. (2004) Analysis of two translocation breakpoints and identification of anegative regulatory element in patients with Rieger’s syndrome. Birth Defects Research Part A: Clinical and Molecular Teratology, 70, 82-91.
http://dx.doi.org/10.1002/bdra.10154

[34]   Kleinjan, D.A. and van Heyningen, V. (2005) Long-range control of gene expression: Emerging mechanisms and disruption in disease. The American Journal of Human Genetics, 76, 8-32. http://dx.doi.org/10.1086/426833

[35]   Kleinjan, D.A. and van Heyningen, V. (1998) Position effects in human genetic disease. Human Molecular Genetics, 7, 1611-1618.
http://dx.doi.org/10.1093/hmg/7.10.1611

[36]   Jiang, G., Yang, F., van Overveld, P.G., Vedanarayanan, V., van der Maarel, S. and Ehrlich, M. (2003) Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Human Molecular Genetics, 15, 2909-2921.
http://dx.doi.org/10.1093/hmg/ddg323

[37]   Saveliev, A., Everett, C., Sharpe, T., Webster, Z. and Festenstein, R. (2003). DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature, 24, 909-913.
http://dx.doi.org/10.1038/nature01596

[38]   Tufarelli, C., Stanley, J.A., Garrick, D., Sharpe, J.A., Ayyub, H., Wood, W.G. and Higgs, D.R. (2003) Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nature Genetics, 34, 157-165.
http://dx.doi.org/10.1038/ng1157

[39]   Wallrath, L.L. and Elgin, S.C. (1995) Position effect variegation in Drosophila is associated with an altered chromatin structure. Genes & Development, 9, 1263-1277.

[40]   Chen, Y., Medvedev, A., Ruzanov, P., Marvin, K.W. and Jetten, A.M. (1997) cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member ofthe PMP22 family. Genomics, 41, 40-48.
http://dx.doi.org/10.1006/geno.1997.4524

[41]   Marvin, K.W., Fujimoto, W. and Jenetten, A. (1995) Identification and characterization of anovel Squamouscell-associated gene related to PMP22. The Journal of Biological Chemistry, 270, 28910-28916.
http://dx.doi.org/10.1074/jbc.270.48.28910

[42]   Törmä, H. (2011)Regulation of keratin expression by retinoids. Dermatoendocrinol, 3, 136-140.

[43]   Cambi, A. and Figdor, C. (2009) Necrosis: C-type lectins sense cell death. Current Biology, 19, R375-378.
http://dx.doi.org/10.1016/j.cub.2009.03.032

 
 
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