cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family

Genomics

Volumn 41, Issue 1, 1997, Pages 40-48

  Chen, Yan ^a,b   Medvedev, Alex ^a   Ruzanov, Peter ^a   Marvin, Keith W ^a,c   Jetten, Anton M ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b BLOOD RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL MEMBRANE PROTEIN; MEMBRANE PROTEIN; MYELIN PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL DEATH; CELL DIFFERENTIATION; CHROMOSOME 12P; CHROMOSOME ANALYSIS; GENE MAPPING; GENE STRUCTURE; HUMAN; HUMAN CELL; HYDROPHOBICITY; MEMBRANE BINDING; MOLECULAR CLONING; PRIORITY JOURNAL; RABBIT; TRANSCRIPTION REGULATION;

ORYCTOLAGUS CUNICULUS;

EID: 0031127216     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4524     Document Type: Article

References (37)

1. Baechner, D., Liehr, T., Hameister, H., Altenberger, H., Grehl, H., Suter, U., and Rautenstrauss, B. (1995). Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development. J. Neurosci. Res. 42: 733-741.
2. Calabrese, G., Di Virgilio, C., Cianchetti, E., Franchi, P. G., Stuppia, L., Parruti, G., Bianchi, P. G., and Palka, G. (1991). Chromosome abnormalities in breast fibroadenomas. Genes Chromosomes Cancer 3: 202-204.
3. Cave, H., Gerard, B., Martin, E., Guidal, C., Devaux, I., Weissenbach, J., Elion, J., Vilmer, E., and Grandchamp, B. (1995). Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor suppressor gene distinct from p27KIP1. Blood 86: 3869-3875.
4. Ciccarelli, C., Philipson, L., and Sorrentino, V. (1990). Regulation of expression of growth arrest-specific genes in mouse fibroblasts. Mol. Cell. Biol. 10: 15295-15297.
5. Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. I., and Lupski, J. R. (1994). Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3: 223-228.
6. Devereux, J., Haeberli, P., and Smithies, O. (1984). A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12: 387-395.
7. Dijkhuizen, T., van den Berg, E., Molenaar, W. M., Meuzelaar, J. J., and de Jong, B. (1995). Rearrangements involving 12p12 in two cases of cardiac myxoma. Cancer Genet. Cytogenet. 82: 161-162.
8. Dugaiczyk, A. D., Haron, J. A., Stone, E. M., Dennison, O. E., Rothblum, K. N., and Schwartz, R. J. (1983). Cloning and sequencing of a ribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger isolated from chicken muscle. Biochemistry 22: 1605-1613.
9. Eckert, R. L., and Rorke, E. A. (1989). Molecular biology of keratinocyte differentiation. Environ. Health Perspect. 80: 109-116.
10. Fabbretti, E., Edomi, P., Brancolini, C., and Schneider, C. (1995). Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9: 1846-1856.
11. Floyd, E. E., and Jetten, A. M. (1989). Regulation of type I (epidermal) transglutaminase mRNA levels during squamous differentiation: Down-regulation by retinoids. Mol. Cell. Biol. 9: 4846-4851.
12. Gray, T. E., Guzman, K., Davis, C. W., Abdullah, L. H., and Nettesheim, P. (1996). Mucociliary differentiation of serially passaged normal human tracheobronchial epithelial cells. Am. J. Respir. Cell Mol. Biol. 14: 104-112.
13. Hammer, J. A., O'Shannessy, D. J., De Leon, M., Gould, R., Zand, D., Daune, G., and Quarles, R. H. (1993). Immunoreactivity of PMP-22, P0, and other 19-28 kD glycoproteins in peripheral nerve myelin of mammals and fish with HNK-1 and related antibodies. J. Neurochem. 35: 546-558.
14. Jetten, A. M., Nervi, C., and Vollberg, A. M. (1992). Control of squamous differentiation in tracheobronchial and epidermal epithelial cells: Role of retinoids. J. Natl. Cancer Inst. 13: 93-100.
15. Manfioletti, G., Ruaro, M. E., Del Sal, G., Philipson, L., and Schneider, C. (1990). A growth-arrest-specific (gas) gene codes for a membrane protein. Mol. Cell. Biol. 10: 2924-2930.
16. Martinotti, A., Cariani, C. T., Melani, C., Sozzi, G., Spurr, N. K., Pierotti, M. A., and Colombo, M. (1992). Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene. Hum. Mol. Genet. 1: 331-334.
17. Marvin, K. W., George, M. D., Fugimoto, W., Saunders, N. A., Bernacki, S. H., and Jetten, A. M. (1992). Cornifin, a crosslinked envelope precursor in keratinocytes that is down-regulated by retinoids. Proc. Natl. Acad. Sci. USA 89: 11026-11030.
18. Marvin, K. W., Fujimoto, W., and Jetten, A. M. (1995). Identification and characterization of a novel squamous cell-associated gene related to PMP22. J. Biol. Chem. 270: 28910-28916.
19. Matsunami, N., Smith, B., Ballard, L., Lensch, M. W., Robertson, M., Albertsen, H., Hanemann, C. O., Muller, H. W., Bird, T. D., White, R., and Chance, P. F. (1992). Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1: 176-179.
20. Mount, S. M. (1982). A catalogue of splice junction sequences. Nucleic Acids Res. 10: 459-472.
21. Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., DeKroon, R. M., Ross, D. A., Pollard, J. D., McLeod, J. G., Bolhuis, P. A., and Bass, F. (1994). A frame shift in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet. 7: 263-266.
22. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., and Suter, U. (1992). The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease 1A. Nature Genet. 1: 159-165.
23. Pierce, J. C., Sternberg, N., and Sauer, B. (1992). A mouse genomic library in the bacteriophage P1 cloning system: Organization and characterization. Mamm. Genome 3: 550-559.
24. Roa, B. B., Dyck, P. J., Marks, H. G., Chance, P. F., and Lupski, J. R. (1993). Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet. 5: 269-273.
25. Saunders, N. A., and Jetten, A. M. (1994). Control of growth regulatory and differentiation-specific genes in human keratinocytes by interferon γ. J. Biol. Chem. 269: 2016-2022.
26. Schachner, M., and Martini, R. (1995). Glycans and the modulation of neural recognition molecule function. Trends Neurosci. 18: 183-191.
27. Sereda, M., Griffiths, I., Puhlhofer, A., Stewart, H., Rossner, M. J., Zimmerman, F., Magyar, J. P., Schneider, A., Hund, E., Meinck, H. M., Suter, U., and Nave, K. A. (1996). A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060.
28. Snipes, G. J., Suter, U., Welcher, A.A., and Shooter, E. M. (1992). Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell Biol. 117: 225-238.
29. Snipes, G. J., Suter, U., Welcher, A. A., and Shooter, E. M. (1993). Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate epitope. J. Neurochem. 61: 1961-1964.
30. Stokke, T., Collins, C., Kuo, W. L., Kowbel, D., Shadravan, F., Tanner, M., Kallioniemi, A., Kallioniemi, O. P., Pinkel, D., Deaven, L., et al. (1995). A physical map of chromosome 20 established using fluorescence in situ hybridization and digital analysis. Genomics 26: 134-137.
31. Suter, U., Welcher, A. A., Ozcelik, T., Snipes, G. J., Kosaras, Francke, U., Billings-Gagliardi, S., Sidman, R. L., and Shooter, E. M. (1992). Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
32. Suter, U., Snipes, G. J., Schoener-Scott, R., Welcher, A. A., Pareek, S., Lupski, J. R., Murphy, R. A., Shooter, E. M., and Patel, P. I. (1994). Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem. 269: 25795-25808.
33. Taylor, V., Welcher, A.A., Amgen EST Program, and Suter, U. (1995). Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family. J. Biol. Chem. 270: 28824-28833.
34. Timmerman, V., Nelis, E., Van Hul, W., Nieuwenhuijsen, B. W., Chen, K. L., Wang, S., Othman, K. B., Cullen, B., Leach, R. J., Hanemann, C. O., De Jonghe, P., Raeymaekers, P., van Ommen, G. B., Martin, J-J., Müller, H. W., Vance, J. M., Fischbeck, K. H., and Van Broeckhoven, C. (1992). The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet. 1: 171-175.
35. Valentijn, L. J., Bolhuis, P. A., Zorn, I., Hoogendijk, J. E., van den Bosch, N., Hensels, G. W., Stanton, V. P., Housman, D. E., Fischbeck, K. H., Ross, D. A., Nicholson, G. A., Meershoek, E. J., Dauwerse, H. G., van Ommen, G. B., and Baas, F. (1992). The peripheral myelin gene PMP22/gas3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet. 1: 166-170.
36. Welcher, A. W., Suter, U., De Leon, M., Snipes, G. J., and Shooter, E. M. (1991). A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl. Acad. Sci. USA 88: 7195-7199.
37. Zoidl, G., Blass-Kampmann, S., D'Urso, D., Schmalenbach, C., and Muller, H. W. (1995). Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth. EMBO J. 14: 1122-1128.