A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: Screening of the Po gene by heteroduplex analysis

Neuroscience Letters

Volumn 204, Issue 3, 1996, Pages 173-176

  Tachi, Nobutada ^a   Kozuka, Naoki ^a   Ohyab, Kazuhiro ^b   Chiba, Shunzo ^b   Sasaki, Kimio ^c   Uyemura, Keichi ^d   Hayasaka, Kiyoshi ^e  

^a SAPPORO MEDICAL UNIVERSITY   (Japan)

^b SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Hokkaido Prefectural Archaeological Operations Center   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e YAMAGATA UNIVERSITY   (Japan)

Author keywords

Charcot Marie Tooth disease; Heteroduplex analysis; Po gene

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CHROMOSOME 17; CONTROLLED STUDY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LEUKOCYTE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030038160     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/0304-3940(96)12347-8     Document Type: Article

References (20)

1. Dyck, P.J., Chance, P., Lebo, R. and Carney, J.A., Hereditary motor and sensory neuropathies. In P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), Peripheral Neuropathy, W.B. Saunders, Philadelphia, PA, 1993, pp. 1094-1136.
2. Espelund, M., Prentice Stacy, R.A. and Jakobsen, K.S., A simple method for generating single-stranded DNA probes labeled to high activities, Nucleic Acids Res., 18 (1990) 6157-6158.
3. Giese, K.P., Martini, R., Lemke, G., Soriano, P. and, Schachner, M., Mouse Po gene disruption leads to hypomyelination, abnormal expression of recognition molecules and degeneration of myelin and axons, Cell, 71 (1992) 565-576.
4. Hayasaka, K., Nanao, K., Tahara, M., Sato, W., Takada, G., Miura, M. and Uyemura, K., Isolation and sequence determination of cDNA encoding the major structural protein human peripheral myelin, Biochem. Biophys. Res. Commun., 180 (1991) 515-518.
5. Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T.D., Conneally, P.M., Chance, P.P., Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin Po gene, Nature Genet., 5 (1993) 31-34.
6. Hayasaka, K., Ohnishi, A., Takada, G., Fukushima, Y. and Murai, Y., Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1, Biochem. Biophys. Res. Commun., 194 (1993) 1317-1322.
7. Hayasaka, K., Takada, G. and Ionasescu, V., Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1B, Hum. Mol. Genet., 2 (1993) 1369-1372.
8. Hayasaka, K., Himoro, M., Wang, Y., Takata, M., Minoshima, S., Shimizu, N., Miura, M., Uyemura, K. and Takada, G., Structure and chromosomal localization of the gene encoding the human myelin protein zero, Genomics, 17 (1993) 755-758.
9. Himoro, M, Yoshikawa, H., Matsui, T., Mitsui, Y., Takahashi, M., Kaido, M., Nishimura, T., Sawaishi, Y., Takada, G. and Hayasaka, K., New mutation of the myelin Po gene in a pedigree of Charcot-Marie-Tooth neuropathy type 1, Biochem. Mol. Biol. Int., 31 (1993) 169-173.
10. Hoogendijk, J.E., Hensels, G.W., Gabreels Festen, A.A.W.M., Gabreels, F.J.M., Janssen, E.A.M., De Jonghe, P., Martin, J.-J., Van Broeckhoven, C., Valentijin, L.J., Baas, F., Visser, M.de. and Bolhuis, P.A., De novo mutation in hereditary motor and sensory neuropathy type 1, Lancet, 339 (1992) 1081-1082.
11. Lemke, G., Lamar, E., and Patterson, J., Isolation and analysis of the gene encoding peripheral myelin protein zero, Neuron, 1 (1988) 73-83.
12. Martini, R., Zielasek, J., Toyka, K.V., Giese, K.P. and Schachner, M., Protein zero (PO)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies, Nature Genet., 11 (1995) 281-286.
13. Nelis, E., Timmerman, V., De Jonghe, P. and Van Broeckhoven, C., Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth type 1, Hum. Mol. Genet., 3 (1994) 515-516.
14. Nelis, E., Timmerman, V., De Jonghe, P., Vandenberghe, A., Pham-Dinh, D., Dautigny, A., Martin, J.-J. and Van Broeckhoven, C., Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphism in the Po gene, Hum. Genet., 94 (1994) 653-657.
15. Palau, F., Lofgren, A., De Jonghe, P., Bort, S., Nelis, E., Sevilla, T., Martin, J.-J., Vilchez, J., Prieto, F. and Van Broeckhoven, C., Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal non-sister chromatid exchange during spermatogenesis, Hum. Mol. Genet., 2 (1993) 2031-2035.
16. Pham-Dinh, D., Fourbil, Y., Blanquest, F., Matte, M.-G., Roeckel, N., Latour, P., Chazot, G., Vandenberghe, A. and Dautigny, A., The major peripheral protein zero gene: structure and localization in the cluster of Fc receptor genes on human chromosome 1q21.3q23, Hum. Mol. Genet., 2 (1993) 2051-2054.
17. Roa, B.B., Garcia, C.A., Suter, U., Kulpa, D.A., Wise, C.A., Mueller, J., Welcher, A.A., Snipes, G.J., Shooter, E.M., Patel, P.I. and Lupski, J.R., Charcot-Marie-Tooth type 1A: association with a spontaneous point mutation in the PMP 22 gene, N. Engl. J. Med., 329 (1993) 96-101.
18. Uyemura, K., Kitamura, K., and Miura., Structure and molecular biology of Po protein. In R.E. Mattenson (Ed.), Myelin: Biology and Chemistry, CRC Press, Boca Raton, 1992, pp. 481-507.
19. Valentijn, L.J., Bass, F., Wolterman, R.A., Hoogendijk, J.E., Bosch NHA, van-den., Zorn, I., Gabreels-Festen, A.A.W.M., Visser, M.de. and Bolhuis, P.A., Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A, Nature Genet., 2 (1992) 288-291.
20. White, M.B., Carvalho, M., Derse, D., O'Brien, S.J. and Dean, M., Detection single base substitutions as heteroduplex polymorphism, Genomics, 12 (1992) 301-306.