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Volumn 7, Issue 1, 1998, Pages 141-148

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHIMERA; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17; CHROMOSOME 17P; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE MAPPING; GENE REARRANGEMENT; GENETIC RECOMBINATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MEIOSIS; MOLECULAR GENETICS; NEUROPATHY; PARALYSIS; PRIORITY JOURNAL; PROMOTER REGION; SISTER CHROMATID EXCHANGE;

EID: 6844239521     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.1.141     Document Type: Article
Times cited : (76)

References (43)
  • 2
    • 0030919339 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
    • Birouk, N., Gouider, R., LeGuem, E., Gugenheim, M., Tardieu, S., Maisonoble, T., Le Forestier, N., Agid, Y, Brice, A. and Bouche, P. (1997) Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain, 120, 813-823.
    • (1997) Brain , vol.120 , pp. 813-823
    • Birouk, N.1    Gouider, R.2    LeGuem, E.3    Gugenheim, M.4    Tardieu, S.5    Maisonoble, T.6    Le Forestier, N.7    Agid, Y.8    Brice, A.9    Bouche, P.10
  • 3
    • 0029399637 scopus 로고
    • Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
    • Gouider, R., LeGuern, E., Gugenheim, M.,Tardieu, S., Maisonoble, T., Léger, J.-M.,Vallat, J.-M., Agid, Y, Bouche, P. and Brice, A. (1995) Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology, 45, 2018-2023.
    • (1995) Neurology , vol.45 , pp. 2018-2023
    • Gouider, R.1    LeGuern, E.2    Gugenheim, M.3    Tardieu, S.4    Maisonoble, T.5    Léger, J.-M.6    Vallat, J.-M.7    Agid, Y.8    Bouche, P.9    Brice, A.10
  • 7
    • 0026440372 scopus 로고
    • Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1A
    • Brice A., Ravisé, N., Stevanin, G., Gugenheim, M., Bouche, P., Penet, C., Agid, Y. and the French CMT Research Group (1992) Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1A. J. Med. Genet., 29, 807-812.
    • (1992) J. Med. Genet. , vol.29 , pp. 807-812
    • Brice, A.1    Ravisé, N.2    Stevanin, G.3    Gugenheim, M.4    Bouche, P.5    Penet, C.6    Agid, Y.7
  • 16
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao, L., Wise, C., Chinault, C., Patel, P. and Lupski, J. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet., 2, 292-300.
    • (1992) Nature Genet. , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.2    Chinault, C.3    Patel, P.4    Lupski, J.5
  • 17
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance, P., Abbas, N., Lensch, M., Pentao, L., Roa, B., Patel, P. and Lupski, J. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet., 3, 223-228.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 223-228
    • Chance, P.1    Abbas, N.2    Lensch, M.3    Pentao, L.4    Roa, B.5    Patel, P.6    Lupski, J.7
  • 18
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa, H., Lensch, W. and Chance, P. (1995) Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum. Mol. Genet., 4, 2327-2334.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2327-2334
    • Kiyosawa, H.1    Lensch, W.2    Chance, P.3
  • 19
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa, H. and Chance, P. (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum. Mol. Genet., 5, 745-753.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 745-753
    • Kiyosawa, H.1    Chance, P.2
  • 20
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter, L., Murakami, T., Koeuth, T., Pentao, L., Muzny, D., Gibbs, R. and Lupski, J. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet., 12, 288-297.
    • (1996) Nature Genet. , vol.12 , pp. 288-297
    • Reiter, L.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.5    Gibbs, R.6    Lupski, J.7
  • 21
    • 0029989649 scopus 로고    scopus 로고
    • Recombination hot spot in a 3.2 kb region of the Charcot-Marie-Tooth Type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth Type 1A
    • Lopes, J., LeGuem, E., Gouider, R., Tardieu, S., Abbas, N., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A. and the French CMT Collaborative Reseach Group. (1996) Recombination hot spot in a 3.2 kb region of the Charcot-Marie-Tooth Type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth Type 1A. Am. J. Hum. Genet., 58, 1223-1230.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1223-1230
    • Lopes, J.1    LeGuem, E.2    Gouider, R.3    Tardieu, S.4    Abbas, N.5    Birouk, N.6    Gugenheim, M.7    Bouche, P.8    Agid, Y.9    Brice, A.10
  • 23
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    • Reiter, L., Murakami, T., Koeuth, T., Gibbs, R. and Lupski, J. (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum. Mol. Genet., 6, 1595-1603.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1595-1603
    • Reiter, L.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.4    Lupski, J.5
  • 25
    • 9044240859 scopus 로고    scopus 로고
    • A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: A new mechanism for deletion in 17p11.2?
    • LeGuern, E., Gouider, R., Ravisé, N., Lopes, J., Tardieu, S., Gugenheim. M., Abbas, N., Bouche, P., Agid, Y. and Brice, A. (1996) A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum. Mol. Genet., 5, 103-106.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 103-106
    • LeGuern, E.1    Gouider, R.2    Ravisé, N.3    Lopes, J.4    Tardieu, S.5    Gugenheim, M.6    Abbas, N.7    Bouche, P.8    Agid, Y.9    Brice, A.10
  • 26
    • 0030040754 scopus 로고    scopus 로고
    • Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): New molecular tools for the study of the region 17p12-p11 and for diagnosis
    • LeGuern, E., Ravisé, N., Gouider, R., Gugenheim, M., Lopes, J., Bouche, P., Agid, Y. and Brice A. (1996) Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12-p11 and for diagnosis. Cytogenet. Cell Genet., 72, 20-25.
    • (1996) Cytogenet. Cell Genet. , vol.72 , pp. 20-25
    • LeGuern, E.1    Ravisé, N.2    Gouider, R.3    Gugenheim, M.4    Lopes, J.5    Bouche, P.6    Agid, Y.7    Brice, A.8
  • 28
    • 0021979069 scopus 로고
    • Hypervariable 'minisatellite' regions in human DNA
    • Jeffreys, A., Wilson, V. and Lay Thein, S. (1985) Hypervariable 'minisatellite' regions in human DNA. Nature, 314, 67-73.
    • (1985) Nature , vol.314 , pp. 67-73
    • Jeffreys, A.1    Wilson, V.2    Lay Thein, S.3
  • 29
    • 0025190946 scopus 로고
    • Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells
    • Wahls, W., Wallace, L. and Moore, P. (1990) Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells. Cell, 60, 95-103.
    • (1990) Cell , vol.60 , pp. 95-103
    • Wahls, W.1    Wallace, L.2    Moore, P.3
  • 30
    • 0029040211 scopus 로고
    • A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations
    • Aoki, K., Suzuki, K., Sugano, T., Tasaka, T., Nakahara, K., Kuge, O., Omori, A. and Kasai, M. (1995) A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations. Nature Genet., 10, 167-174.
    • (1995) Nature Genet. , vol.10 , pp. 167-174
    • Aoki, K.1    Suzuki, K.2    Sugano, T.3    Tasaka, T.4    Nakahara, K.5    Kuge, O.6    Omori, A.7    Kasai, M.8
  • 31
    • 0026090523 scopus 로고
    • Structural and genetic properties of the Eb recombinational hotspot in the mouse
    • Zimmerer, E. and Passmore, H. (1991) Structural and genetic properties of the Eb recombinational hotspot in the mouse, Immunogenetics, 33, 132-140.
    • (1991) Immunogenetics , vol.33 , pp. 132-140
    • Zimmerer, E.1    Passmore, H.2
  • 32
    • 0345121805 scopus 로고
    • Gene organization and recombinational hotspot in the murine major histocompatibility complex
    • Steinmetz, M., Stephan, D. and Fischer-Lindahl, K. (1986) Gene organization and recombinational hotspot in the murine major histocompatibility complex. Cell, 50, 719-727.
    • (1986) Cell , vol.50 , pp. 719-727
    • Steinmetz, M.1    Stephan, D.2    Fischer-Lindahl, K.3
  • 33
    • 0022775294 scopus 로고
    • Molecular characterization of a meiotic recombinational hotspot enhancing homologous equal crossing-over
    • Uematsu, Y., Kiefer, H., Schulze, R., Fischer-Lindahl, K. and Steinmetz, M. (1986) Molecular characterization of a meiotic recombinational hotspot enhancing homologous equal crossing-over. EMBO J., 5, 2123-2129.
    • (1986) EMBO J. , vol.5 , pp. 2123-2129
    • Uematsu, Y.1    Kiefer, H.2    Schulze, R.3    Fischer-Lindahl, K.4    Steinmetz, M.5
  • 34
    • 0023038126 scopus 로고
    • Molecular analysis of the hotspot of recombination in the murine major histocompalibility complex
    • Kobori, J., Strauss, E., Minard, K. and Hood, L. (1986) Molecular analysis of the hotspot of recombination in the murine major histocompalibility complex. Science, 234, 173-179.
    • (1986) Science , vol.234 , pp. 173-179
    • Kobori, J.1    Strauss, E.2    Minard, K.3    Hood, L.4
  • 35
    • 0019457036 scopus 로고
    • Structure of chi hotspots of generalized recombination
    • Smith, G., Kunes, S., Schultz, D., Taylor, A. and Triman, K. (1981) Structure of chi hotspots of generalized recombination. Cell, 24, 429-436.
    • (1981) Cell , vol.24 , pp. 429-436
    • Smith, G.1    Kunes, S.2    Schultz, D.3    Taylor, A.4    Triman, K.5
  • 37
    • 0029009080 scopus 로고
    • Allele-dependent recombination frequency: Homology requirement in meiotic recombination at the hot spot in the mouse major histocompatibility complex
    • Yoshino, M., Sagai, T., Fischer-Lindahl, K., Toyoda, Y., Moriwaki, K. and Shiroishi, T. (1995) Allele-dependent recombination frequency: homology requirement in meiotic recombination at the hot spot in the mouse major histocompatibility complex, Genomics, 27, 298-305.
    • (1995) Genomics , vol.27 , pp. 298-305
    • Yoshino, M.1    Sagai, T.2    Fischer-Lindahl, K.3    Toyoda, Y.4    Moriwaki, K.5    Shiroishi, T.6
  • 39
    • 0026641321 scopus 로고
    • Evidence that nucleotide sequence identity is a requirement for meiotic crossing-over within mouse Eb recombinational hot spot
    • Sant'Angelo, D., Lafuse, W. and Passmore, H. (1992) Evidence that nucleotide sequence identity is a requirement for meiotic crossing-over within mouse Eb recombinational hot spot. Genomics. 13, 1334-1336.
    • (1992) Genomics , vol.13 , pp. 1334-1336
    • Sant'Angelo, D.1    Lafuse, W.2    Passmore, H.3
  • 40
    • 0023684936 scopus 로고
    • Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology
    • Waldman, A. and Liskay, M. (1988) Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol. Cell. Biol., 8, 5350-5357.
    • (1988) Mol. Cell. Biol. , vol.8 , pp. 5350-5357
    • Waldman, A.1    Liskay, M.2
  • 41
    • 0021742268 scopus 로고
    • The minimum amount of homology required for homologous recombination in mammalian cells
    • Rubnitz, J. and Subramani, S. (1984) The minimum amount of homology required for homologous recombination in mammalian cells. Mol. Cell. Biol., 4, 2253-2258.
    • (1984) Mol. Cell. Biol. , vol.4 , pp. 2253-2258
    • Rubnitz, J.1    Subramani, S.2
  • 43
    • 0025826677 scopus 로고
    • A specific DNA sequence is required for high frequency of recombination in the ade6 gene of fission yeast
    • Schuchert, P., Langsford, M., Käslin, E. and Kohli, J. (1991) A specific DNA sequence is required for high frequency of recombination in the ade6 gene of fission yeast. EMBO J., 10, 2157-2163.
    • (1991) EMBO J. , vol.10 , pp. 2157-2163
    • Schuchert, P.1    Langsford, M.2    Käslin, E.3    Kohli, J.4


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