메뉴 건너뛰기




Volumn 6, Issue 9, 1997, Pages 1595-1603

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

Author keywords

[No Author keywords available]

Indexed keywords

FARNESYL TRANS TRANSFERASE; HEME; REPETITIVE DNA;

EID: 0030871024     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1595     Document Type: Article
Times cited : (80)

References (44)
  • 2
    • 0027017033 scopus 로고
    • Charcot-Maric-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit
    • Pentao,L., Wise,C.A., Chinault,A.C., Patel,P.I. and Lupski,J.R. (1992) Charcot-Maric-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nature Genet., 2, 292-300.
    • (1992) Nature Genet. , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.A.4    Lupski, J.R.5
  • 4
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • ChanceP.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.
    • (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
  • 6
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
    • Wise,C.A., Garcia,C.A., Davis,S.N., Heju,Z., Pentao,L., Patel,P.I. and Lupski,J.R. (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet., 53, 853-863.
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3    Heju, Z.4    Pentao, L.5    Patel, P.I.6    Lupski, J.R.7
  • 7
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis,E. et al. (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet., 4, 25-33.
    • (1996) Eur. J. Hum. Genet. , vol.4 , pp. 25-33
    • Nelis, E.1
  • 9
    • 0030187782 scopus 로고    scopus 로고
    • Editorial: DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies
    • Lupski,J.R. (1996) Editorial: DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin. Chem., 42, 995-998.
    • (1996) Clin. Chem. , vol.42 , pp. 995-998
    • Lupski, J.R.1
  • 10
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter,L.T., Murakami,J., Koeuth,T., Pentao,L., Muzny,D.M., Gibbs,R.A. and Lupski,J.R. (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.T.1    Murakami, J.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 11
    • 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 hereditery neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A
    • Lopes,J., LeGuern,E., Gouider,R., Tardieu,S., Abbas,N., Birouk,N., Gugenheim,M., Bouche,P., Agid,Y., Brice,A. and the French CMT Collaborative Research 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 hereditery 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    LeGuern, 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
  • 12
    • 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.F. (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.A.1    Chance, P.F.2
  • 15
    • 0027366552 scopus 로고
    • Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
    • Lupski,J.R., Chance,P.F. and Garcia,C.A. (1993) Inherited primary peripheral neuropathies: molecular genetics and clinical implications of CMT1A and HNPP. J. Am. Med. Ass., 270, 2326-2330.
    • (1993) J. Am. Med. Ass. , vol.270 , pp. 2326-2330
    • Lupski, J.R.1    Chance, P.F.2    Garcia, C.A.3
  • 16
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel,P.I. and Lupski,J.R. (1994) Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet., 10, 128-133.
    • (1994) Trends Genet. , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2
  • 17
    • 0029793042 scopus 로고    scopus 로고
    • Reviews in Molecular Medicine: Charcot-Marie-Tooth disease and related inherited neuropathies
    • Murakami,T., Garcia,C.A., Reiter.L.T. and Lupski,J.R. (1996) Reviews in Molecular Medicine: Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine, 75, 233-250.
    • (1996) Medicine , vol.75 , pp. 233-250
    • Murakami, T.1    Garcia, C.A.2    Reiter, L.T.3    Lupski, J.R.4
  • 19
    • 0025730979 scopus 로고
    • Homology requirements for unequal crossing over in humans
    • Metzenberg,A.B., Wurzer,G., Huisman,T.H.J. and Smithies,O. (1991) Homology requirements for unequal crossing over in humans. Genetics, 128, 143-161.
    • (1991) Genetics , vol.128 , pp. 143-161
    • Metzenberg, A.B.1    Wurzer, G.2    Huisman, T.H.J.3    Smithies, O.4
  • 20
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa,H., Lensch,M.W. and Chance,P.F. (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
  • 21
    • 9844247369 scopus 로고    scopus 로고
    • Reiter,L.T., Murakami,T., Gibbs,R.A. and Lupski,J.R. GenBank accession no. HSU71218
    • Reiter,L.T., Murakami,T., Gibbs,R.A. and Lupski,J.R. GenBank accession no. HSU71218.
  • 22
    • 9844253214 scopus 로고    scopus 로고
    • Reiter,L.T., Murakami,T., Gibbs,R.A. and Lupski,J.R. GenBank accession no. HSU71217
    • Reiter,L.T., Murakami,T., Gibbs,R.A. and Lupski,J.R. GenBank accession no. HSU71217.
  • 24
    • 0030013766 scopus 로고    scopus 로고
    • BCM Search Launcher - An integrated interface to molecular biology database search and analysis services available on the World Wide Web
    • Smith,R.F., Wiese,B.A., Wojzynski,M.K., Davison,D.B. and Worley,K.C. (1996) BCM Search Launcher - an integrated interface to molecular biology database search and analysis services available on the World Wide Web. Genome Res., 6, 454-462
    • (1996) Genome Res. , vol.6 , pp. 454-462
    • Smith, R.F.1    Wiese, B.A.2    Wojzynski, M.K.3    Davison, D.B.4    Worley, K.C.5
  • 25
    • 9844253213 scopus 로고    scopus 로고
    • Glerum,M.D. and Tzagoloff,A. EMBL accession no. HSU09466
    • Glerum,M.D. and Tzagoloff,A. EMBL accession no. HSU09466.
  • 27
    • 0028038276 scopus 로고
    • Isolation of a human cDNA for heme A:famesyltransferase by functional complementation of a yeast cox10 mutant
    • Glerum,D.M. and Tzagoloff,A. (1994) Isolation of a human cDNA for heme A:famesyltransferase by functional complementation of a yeast cox10 mutant. Proc. Natl. Acad. Sci. USA, 91, 8452-8456.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 8452-8456
    • Glerum, D.M.1    Tzagoloff, A.2
  • 29
    • 9844238502 scopus 로고    scopus 로고
    • Olson,V.M., Riles,L. and the American Type Culture Collection. ATCC 70912
    • Olson,V.M., Riles,L. and the American Type Culture Collection. ATCC 70912.
  • 31
    • 0031570285 scopus 로고    scopus 로고
    • Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene
    • Murakami,T., Reiter,L.T. and Lupski,J.R. (1997) Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics,42, 161-164.
    • (1997) Genomics , vol.42 , pp. 161-164
    • Murakami, T.1    Reiter, L.T.2    Lupski, J.R.3
  • 32
    • 0031015760 scopus 로고    scopus 로고
    • Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12
    • Murakami,T., Sun,Z.S., Lee,C.C. and Lupski,J.R. (1997) Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics, 39, 99-103.
    • (1997) Genomics , vol.39 , pp. 99-103
    • Murakami, T.1    Sun, Z.S.2    Lee, C.C.3    Lupski, J.R.4
  • 33
    • 0025076235 scopus 로고
    • COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochome oxidase
    • Nobrega,M.P., Nobrega,F.G. and Tzagoloff,A. (1990) COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochome oxidase. J. Biol. Chem., 265, 14220-14226.
    • (1990) J. Biol. Chem. , vol.265 , pp. 14220-14226
    • Nobrega, M.P.1    Nobrega, F.G.2    Tzagoloff, A.3
  • 35
    • 0028152645 scopus 로고
    • Biosynthesis and functional role of haem O and haem a
    • Mogi,T., Saiki,K. and Anraku,Y. (1994) Biosynthesis and functional role of haem O and haem A. Mol. Microbiol., 14, 391-398.
    • (1994) Mol. Microbiol. , vol.14 , pp. 391-398
    • Mogi, T.1    Saiki, K.2    Anraku, Y.3
  • 36
    • 0000355861 scopus 로고
    • Oxidative phosphorylation diseases
    • Scriver,C.R., Beaudet,A.L., Sly,W.S. and Valle,D. (eds). McGraw Hill, New York, NY
    • ShoffnerJ,M. and Wallace,D.C. (1995) Oxidative phosphorylation diseases. In Scriver,C.R., Beaudet,A.L., Sly,W.S. and Valle,D. (eds), The Metabolic and Molecular Basis of Inherited Disease, 7th Edn. McGraw Hill, New York, NY, Vol. 1, pp. 1535-1609.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease, 7th Edn. , vol.1 , pp. 1535-1609
    • Shoffner, J.1    Wallace, D.C.2
  • 41
    • 0028201453 scopus 로고
    • Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis
    • Kallioniemi,O.-P., Kallioniemi,A., Mascio,L., Sudar,D., Pinkel,D., Deaven,L. and Gray,J. (1994) Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis. Genomics, 20, 125-128.
    • (1994) Genomics , vol.20 , pp. 125-128
    • Kallioniemi, O.-P.1    Kallioniemi, A.2    Mascio, L.3    Sudar, D.4    Pinkel, D.5    Deaven, L.6    Gray, J.7
  • 42
    • 0028209722 scopus 로고
    • Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing
    • Andersson,B., Povinelli,C.M., Wentland,M.A., Shen,Y., Muzny,D.M. and Gibbs,R.A. (1994) Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Anal Biochem., 218, 300-308.
    • (1994) Anal Biochem. , vol.218 , pp. 300-308
    • Andersson, B.1    Povinelli, C.M.2    Wentland, M.A.3    Shen, Y.4    Muzny, D.M.5    Gibbs, R.A.6
  • 43
    • 0012054629 scopus 로고
    • PCR based strategies for gap closure in large-scale sequencing projects
    • Adams,M.A. (ed.). Academic Press, London, UK
    • Muzny,D.M., Richards,S., Shen,Y. and Gibbs,R.A. (1994) PCR based strategies for gap closure in large-scale sequencing projects. In Adams,M.A. (ed.), Automated DNA Sequencing and Analysis. Academic Press, London, UK, pp. 182-190.
    • (1994) Automated DNA Sequencing and Analysis , pp. 182-190
    • Muzny, D.M.1    Richards, S.2    Shen, Y.3    Gibbs, R.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.