메뉴 건너뛰기




Volumn 63, Issue 1, 1998, Pages 207-217

Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

EID: 0032231957     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301933     Document Type: Article
Times cited : (90)

References (50)
  • 1
    • 0028142316 scopus 로고
    • Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families
    • Boespflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Pham Dinh D, Dastugue B, et al (1994) Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 55:461-467
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boespflug-Tanguy, O.1    Mimault, C.2    Melki, J.3    Cavagna, A.4    Giraud, G.5    Pham Dinh, D.6    Dastugue, B.7
  • 2
    • 0024430148 scopus 로고
    • Myelin-deficient rat: A point mutation in exon III (A - C, Thr75 - Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death
    • Boison D, Stoffel W (1989) Myelin-deficient rat: a point mutation in exon III (A - C, Thr75 - Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death. EMBO J 8:3295-3302
    • (1989) EMBO J , vol.8 , pp. 3295-3302
    • Boison, D.1    Stoffel, W.2
  • 3
    • 0029155690 scopus 로고
    • Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease
    • Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG (1995) Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 38: 610-617
    • (1995) Ann Neurol , vol.38 , pp. 610-617
    • Carango, P.1    Funanage, V.L.2    Quirós, R.E.3    Debruyn, C.S.4    Marks, H.G.5
  • 4
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (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.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 5
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contigous gene deletion syndrome
    • Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contigous gene deletion syndrome. Nat Genet 17:154-163
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.-S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7
  • 6
    • 0029011991 scopus 로고
    • Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
    • Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, et al (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48
    • (1995) Am J Hum Genet , vol.57 , pp. 40-48
    • Christian, S.L.1    Robinson, W.P.2    Huang, B.3    Mutirangura, A.4    Line, M.R.5    Nakao, M.6    Surti, U.7
  • 7
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 8
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6: 333-334
    • (1994) Nat Genet , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 11
  • 13
    • 0029980998 scopus 로고    scopus 로고
    • A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
    • Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, et al (1996a) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39
    • (1996) Am J Hum Genet , vol.59 , pp. 32-39
    • Inoue, K.1    Osaka, H.2    Sugiyama, N.3    Kawanishi, C.4    Onishi, H.5    Nezu, A.6    Kimura, K.7
  • 14
    • 0030176138 scopus 로고    scopus 로고
    • Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage
    • Inoue Y, Kagawa T, Matsumura Y, Ikenaka K, Mikoshiba K (1996b) Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage. Neurosci Res 25:161-172
    • (1996) Neurosci Res , vol.25 , pp. 161-172
    • Inoue, Y.1    Kagawa, T.2    Matsumura, Y.3    Ikenaka, K.4    Mikoshiba, K.5
  • 16
    • 0027512552 scopus 로고
    • Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication
    • Ionasescu VV, Ionasescu R, Searby C, Barker DF (1993) Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. Hum Mol Genet 2:405-410
    • (1993) Hum Mol Genet , vol.2 , pp. 405-410
    • Ionasescu, V.V.1    Ionasescu, R.2    Searby, C.3    Barker, D.F.4
  • 17
    • 0028133486 scopus 로고
    • Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene
    • Kagawa T, Ikenaka K, Inoue Y, Kuriyama S, Tsujii T, Nakao J, Nakajima K, et al (1994) Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 13:427-442
    • (1994) Neuron , vol.13 , pp. 427-442
    • Kagawa, T.1    Ikenaka, K.2    Inoue, Y.3    Kuriyama, S.4    Tsujii, T.5    Nakao, J.6    Nakajima, K.7
  • 18
    • 0031571088 scopus 로고    scopus 로고
    • A complete YAC contig and cosmid interval map covering the entirety of human Xq21.33 to Xq22.3 from DXS3 to DXS287
    • Kendall E, Evans W, Jin H, Holland J, Vetrie D (1997) A complete YAC contig and cosmid interval map covering the entirety of human Xq21.33 to Xq22.3 from DXS3 to DXS287. Genomics 43:171-182
    • (1997) Genomics , vol.43 , pp. 171-182
    • Kendall, E.1    Evans, W.2    Jin, H.3    Holland, J.4    Vetrie, D.5
  • 19
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa H, Chance PF (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.F.2
  • 20
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa H, Lensch MW, Chance PF (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, M.W.2    Chance, P.F.3
  • 22
    • 0030869978 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq
    • Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG (1997) Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 49:824-832
    • (1997) Neurology , vol.49 , pp. 824-832
    • Lazzarini, A.1    Schwarz, K.O.2    Jiang, S.3    Stenroos, E.S.4    Lehner, T.5    Johnson, W.G.6
  • 23
    • 6844239521 scopus 로고    scopus 로고
    • Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
    • Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N (1998) Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet 7: 141-148
    • (1998) Hum Mol Genet , vol.7 , pp. 141-148
    • Lopes, J.1    Ravisé, N.2    Vandenberghe, A.3    Palau, F.4    Ionasescu, V.5    Mayer, M.6    Lévy, N.7
  • 27
    • 0025155194 scopus 로고
    • A point mutation in the proteolipid protein gene of the "shaking pup" interrupts oligodendrocyte development
    • Nadon NL, Duncan ID, Hudson LD (1990) A point mutation in the proteolipid protein gene of the "shaking pup" interrupts oligodendrocyte development. Development 110: 529-537
    • (1990) Development , vol.110 , pp. 529-537
    • Nadon, N.L.1    Duncan, I.D.2    Hudson, L.D.3
  • 28
    • 0022889377 scopus 로고
    • Jimpy mutant mouse: A 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing
    • Nave KA, Lai C, Bloom FE, Milner RJ (1986) Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci USA 83:9264-9268
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 9264-9268
    • Nave, K.A.1    Lai, C.2    Bloom, F.E.3    Milner, R.J.4
  • 29
    • 0023389399 scopus 로고
    • Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin
    • _ (1987) Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 84:5665-5669
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 5665-5669
  • 30
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP): A European collaborative study
    • Nelis E, Van Broeckhoven C, De Jonghe P, Lofgren A, Vandenberghe A, Latour P, Le Guern E, et al (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP): a European collaborative study. Eur J Hum Genet 4:25-33
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3    Lofgren, A.4    Vandenberghe, A.5    Latour, P.6    Le Guern, E.7
  • 32
    • 0027759563 scopus 로고
    • Origin of the de novo duplication in Charcot-Marie-Tooth type 1A: Unequal nonsister chromatid exchange during spermatogenesis
    • Palau F, Lofgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, et al (1993) Origin of the de novo duplication in Charcot-Marie-Tooth type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2: 2031-2035
    • (1993) Hum Mol Genet , vol.2 , pp. 2031-2035
    • Palau, F.1    Lofgren, A.2    De Jonghe, P.3    Bort, S.4    Nelis, E.5    Sevilla, T.6    Martin, J.J.7
  • 33
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat Genet 2:292-300
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 34
    • 0026132370 scopus 로고
    • Major myelin proteolipid: The 4-alpha-helix topology
    • Popot J-L, Pham-Dinh D, Dautigny A (1991) Major myelin proteolipid: the 4-alpha-helix topology. J Membr Biol 120: 233-246
    • (1991) J Membr Biol , vol.120 , pp. 233-246
    • Popot, J.-L.1    Pham-Dinh, D.2    Dautigny, A.3
  • 37
    • 0026348463 scopus 로고
    • Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
    • Raskind WH, Williams CA, Hudson LD, Bird TD (1991) Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360
    • (1991) Am J Hum Genet , vol.49 , pp. 1355-1360
    • Raskind, W.H.1    Williams, C.A.2    Hudson, L.D.3    Bird, T.D.4
  • 38
    • 0028325902 scopus 로고
    • Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage
    • Readhead C, Schneider A, Griffiths I, Nave KA (1994) Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12: 583-595
    • (1994) Neuron , vol.12 , pp. 583-595
    • Readhead, C.1    Schneider, A.2    Griffiths, I.3    Nave, K.A.4
  • 39
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 41
    • 85031593749 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    • in press
    • Sistermans EA, de Coo RFM, de Wijs IJ, van Oost BA. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology (in press)
    • Neurology
    • Sistermans, E.A.1    De Coo, R.F.M.2    De Wijs, I.J.3    Van Oost, B.A.4
  • 43
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
    • Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, et al (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3    Nieuwenhuijsen, B.W.4    Chen, K.L.5    Wang, S.6    Ben Othman, K.7
  • 44
    • 0026017360 scopus 로고
    • Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei
    • Trask BJ, Massa H, Kenwrick S, Gitschier J (1991) Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet 48:1-15
    • (1991) Am J Hum Genet , vol.48 , pp. 1-15
    • Trask, B.J.1    Massa, H.2    Kenwrick, S.3    Gitschier, J.4
  • 47
    • 0028082092 scopus 로고
    • A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22
    • Vetrie D, Kendall E, Coffey A, Hassock S, Collins J, Todd C, Lehrach H, et al (1994) A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22. Genomics 19:42-47
    • (1994) Genomics , vol.19 , pp. 42-47
    • Vetrie, D.1    Kendall, E.2    Coffey, A.3    Hassock, S.4    Collins, J.5    Todd, C.6    Lehrach, H.7
  • 48
    • 0030681255 scopus 로고    scopus 로고
    • Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
    • Wang P-J, Hwu W-L, Lee W-T, Wang T-R, Shen Y-Z (1997) Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease. Pediatr Neurol 17: 125-128
    • (1997) Pediatr Neurol , vol.17 , pp. 125-128
    • Wang, P.-J.1    Hwu, W.-L.2    Lee, W.-T.3    Wang, T.-R.4    Shen, Y.-Z.5
  • 49
    • 0023154464 scopus 로고
    • Release of a thymidine block and use of a constant humidity chamber for slide making
    • Wheater RF, Roberts SH (1987) Release of a thymidine block and use of a constant humidity chamber for slide making. J Med Genet 24:113-115
    • (1987) J Med Genet , vol.24 , pp. 113-115
    • Wheater, R.F.1    Roberts, S.H.2
  • 50
    • 0022409105 scopus 로고
    • Assignment of the gene for myelin proteolipid protein to the X chromosome: Implications for X-linked myelin disorders
    • Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940-942
    • (1985) Science , vol.230 , pp. 940-942
    • Willard, H.F.1    Riordan, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.