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Volumn 7, Issue 2, 1998, Pages 157-164

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2Ψ: The sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

Author keywords

[No Author keywords available]

Indexed keywords

MUTASE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

EID: 0031974540     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.157     Document Type: Article
Times cited : (40)

References (32)
  • 1
    • 0031019482 scopus 로고    scopus 로고
    • Syndrome of the month: Carbohydrate-deficient glycoprotein (CDG) syndrome type 1
    • Jaeken, J., Matthijs. G., Barone, R. and Carchon, H. (1997) Syndrome of the month: Carbohydrate-deficient glycoprotein (CDG) syndrome type 1. J. Med. Genet., 34, 73-76.
    • (1997) J. Med. Genet. , vol.34 , pp. 73-76
    • Jaeken, J.1    Matthijs, G.2    Barone, R.3    Carchon, H.4
  • 2
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1
    • Van Schaftingen, E. and Jaeken, J. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1. FEBS Lett., 377, 318-320.
    • (1995) FEBS Lett. , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2
  • 4
    • 0023892916 scopus 로고
    • The Yeast SEC53 gene encodes Phosphomannomutase
    • Kepes, F. and Schekman, R. (1988) The Yeast SEC53 gene encodes Phosphomannomutase. J. Biol. Chem., 263, 9155-9161.
    • (1988) J. Biol. Chem. , vol.263 , pp. 9155-9161
    • Kepes, F.1    Schekman, R.2
  • 5
    • 0031568887 scopus 로고    scopus 로고
    • PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
    • Matthijs, G., Schollen, E., Pirard, M., Budarf. M.L., Van Schaftingen, E. and Cassiman, J.-J. (1997) PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics, 40, 41-47.
    • (1997) Genomics , vol.40 , pp. 41-47
    • Matthijs, G.1    Schollen, E.2    Pirard, M.3    Budarf, M.L.4    Van Schaftingen, E.5    Cassiman, J.-J.6
  • 6
    • 0031005847 scopus 로고    scopus 로고
    • Mutations in a phospho-mannomutase gene, PMM2, on chromosome 16 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndromeee)
    • Matthijs, G., Schollen, E., Pardon, E., Veiga-da-Cunha, M., Jaeken, J., Cassiman, J.-J. and Van Schaftingen, E. (1997) Mutations in a phospho-mannomutase gene, PMM2, on chromosome 16 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndromeee). Nature Genet., 16, 88-92.
    • (1997) Nature Genet. , vol.16 , pp. 88-92
    • Matthijs, G.1    Schollen, E.2    Pardon, E.3    Veiga-da-Cunha, M.4    Jaeken, J.5    Cassiman, J.-J.6    Van Schaftingen, E.7
  • 7
    • 0028131707 scopus 로고
    • Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
    • Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F, Jaeken, J., Blennow, G., Strömme,P., Hanefeld, F. and Wahlström, J. (1994) Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet., 3, 2037-2042.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2037-2042
    • Martinsson, T.1    Bjursell, C.2    Stibler, H.3    Kristiansson, B.4    Skovby, F.5    Jaeken, J.6    Blennow, G.7    Strömme, P.8    Hanefeld, F.9    Wahlström, J.10
  • 9
    • 0031081725 scopus 로고    scopus 로고
    • Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): Linkage disequilibrium and founder effect in Scandinavian families
    • Bjursell, C., Stibler, H., Wahlström, J., Kristiansson, B., Skovby, F., Strömme, P., Blennow, G. and Martinsson, T. (1997) Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. Genomics, 39, 247-253.
    • (1997) Genomics , vol.39 , pp. 247-253
    • Bjursell, C.1    Stibler, H.2    Wahlström, J.3    Kristiansson, B.4    Skovby, F.5    Strömme, P.6    Blennow, G.7    Martinsson, T.8
  • 10
    • 0029990004 scopus 로고    scopus 로고
    • Report of the fourth international workshop on human chromosome 16 mapping 1995
    • Doggett, N.A., Breuning, M.H. and Callen, D.F. (1996) Report of the fourth international workshop on human chromosome 16 mapping 1995. Cytogenet. Cell Genet., 72, 271-293.
    • (1996) Cytogenet. Cell Genet. , vol.72 , pp. 271-293
    • Doggett, N.A.1    Breuning, M.H.2    Callen, D.F.3
  • 12
    • 0025684781 scopus 로고
    • An expanded mouse-human hybrid cell panel for mapping human chromosome 16
    • Callen, D.F, Baker, E., Eyre, H.J. and Lane, S.A. (1990) An expanded mouse-human hybrid cell panel for mapping human chromosome 16. Ann. Genet., 33, 190-195.
    • (1990) Ann. Genet. , vol.33 , pp. 190-195
    • Callen, D.F.1    Baker, E.2    Eyre, H.J.3    Lane, S.A.4
  • 14
    • 0029588403 scopus 로고
    • mRNA retroposition in human cells: Processed pseudogene formation
    • Maestre, J., Tchenio, T., Dhellin, O. and Heidmann, T. (1995) mRNA retroposition in human cells: processed pseudogene formation. EMBO J., 14, 6333-6338.
    • (1995) EMBO J. , vol.14 , pp. 6333-6338
    • Maestre, J.1    Tchenio, T.2    Dhellin, O.3    Heidmann, T.4
  • 17
    • 0031567574 scopus 로고    scopus 로고
    • Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells
    • Pirard, M., Collet, J.-F., Matthijs, G. and Van Schaftingen. E. (1997) Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. FEBS Lett., 411, 251-254.
    • (1997) FEBS Lett. , vol.411 , pp. 251-254
    • Pirard, M.1    Collet, J.-F.2    Matthijs, G.3    Van Schaftingen, E.4
  • 19
    • 0028880040 scopus 로고
    • A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9
    • Edwards, Y.H., Putt, W., Fox, M. and Ives, J.H. (1995) A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9. Genomics, 30, 350-353.
    • (1995) Genomics , vol.30 , pp. 350-353
    • Edwards, Y.H.1    Putt, W.2    Fox, M.3    Ives, J.H.4
  • 21
    • 0029025225 scopus 로고
    • Localization of human CREBBP (CREB binding protein) to 16p13.3 by fluorescence in situ hybridization
    • Chen, X.-N. and Korenberg, J.R. (1995) Localization of human CREBBP (CREB binding protein) to 16p13.3 by fluorescence in situ hybridization. Cytogenet. Cell Genet., 71, 56-57.
    • (1995) Cytogenet. Cell Genet. , vol.71 , pp. 56-57
    • Chen, X.-N.1    Korenberg, J.R.2
  • 22
    • 0028791546 scopus 로고
    • Localization of human CREB-binding protein gene (CREBBP) to 16p 13.2-p13.3 by fluorescence in situ hybridization
    • Wydner. K.L., Bhattacharya, S., Eckner, R., Lawrence, J.B. and Livingston, D.M. (1995) Localization of human CREB-binding protein gene (CREBBP) to 16p 13.2-p13.3 by fluorescence in situ hybridization. Genomics. 30, 395-396.
    • (1995) Genomics , vol.30 , pp. 395-396
    • Wydner, K.L.1    Bhattacharya, S.2    Eckner, R.3    Lawrence, J.B.4    Livingston, D.M.5
  • 23
    • 0028296414 scopus 로고
    • Molecular cloning and functional analysis of the adenovirus E1 A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor
    • Eckner, R., Ewen, M.E., Newsome, D., Gerdes, M., DeCaprio, J.A., Lawrence, J.B. and Livingston, D.M. (1994) Molecular cloning and functional analysis of the adenovirus E1 A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor. Genes Dev., 8, 869-884.
    • (1994) Genes Dev. , vol.8 , pp. 869-884
    • Eckner, R.1    Ewen, M.E.2    Newsome, D.3    Gerdes, M.4    DeCaprio, J.A.5    Lawrence, J.B.6    Livingston, D.M.7
  • 24
    • 0028293023 scopus 로고
    • Chromosomal localization of the human oxygenase genes: Heme oxygenase-1 (HMOX1) maps to chromosome 22q12 and heme oxygenase-2 (HMOX2) maps to chromosome 16p13.3
    • Kutty, R.K., Kutty, G., Rodriguez, I.R., Chader, G.J. and Wiggert, B. (1994) Chromosomal localization of the human oxygenase genes: heme oxygenase-1 (HMOX1) maps to chromosome 22q12 and heme oxygenase-2 (HMOX2) maps to chromosome 16p13.3. Genomics, 20, 513-516.
    • (1994) Genomics , vol.20 , pp. 513-516
    • Kutty, R.K.1    Kutty, G.2    Rodriguez, I.R.3    Chader, G.J.4    Wiggert, B.5
  • 25
    • 0027729555 scopus 로고
    • Patterns in genome evolution
    • Ohno, S. (1993) Patterns in genome evolution. Curr. Opin. Genet. Devel., 3, 911-914.
    • (1993) Curr. Opin. Genet. Devel. , vol.3 , pp. 911-914
    • Ohno, S.1
  • 27
    • 0031032594 scopus 로고    scopus 로고
    • Characterization of monoclonal antibodies raised against p300: Both p300 and CBP are present in intracellular TBP complexes
    • Dallas, P.B., Yaciuk, P. and Moran, E. (1997) Characterization of monoclonal antibodies raised against p300: both p300 and CBP are present in intracellular TBP complexes. J. Virol., 71, 1726-1731.
    • (1997) J. Virol. , vol.71 , pp. 1726-1731
    • Dallas, P.B.1    Yaciuk, P.2    Moran, E.3
  • 28
    • 0001952402 scopus 로고
    • Evolution of DNA sequences
    • Maclntyre, R.J. (ed.), Plenum Press. New York
    • Li, W.-H., Luo, C.-C. and Wu, C.-I. (1983) Evolution of DNA sequences. In Maclntyre, R.J. (ed.), Molecular Evolutionary Genetics. Plenum Press. New York.
    • (1983) Molecular Evolutionary Genetics
    • Li, W.-H.1    Luo, C.-C.2    Wu, C.-I.3
  • 30
    • 0029689508 scopus 로고    scopus 로고
    • Restriction analysis of YACs
    • Ragoussis, J. (1996) Restriction analysis of YACs. Methods Mol. Biol., 54, 69-74.
    • (1996) Methods Mol. Biol. , vol.54 , pp. 69-74
    • Ragoussis, J.1


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