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Volumn 63, Issue 1, 1998, Pages 148-154

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE OXIDASE; MOLYBDENUM; SULFITE OXIDASE; XANTHINE DEHYDROGENASE;

EID: 0032231940     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301916     Document Type: Article
Times cited : (15)

References (39)
  • 2
    • 85031586673 scopus 로고    scopus 로고
    • for MoCoD type A [252150] and type B [252160]
    • Online Mendelian inheritance in man (OMIM), http:// www.ncbi.nlm.mh.gov/Omim (for MoCoD type A [252150] and type B [252160])
  • 5
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • Collins FS (1995) Positional cloning moves from perditional to traditional. Nat Genet 9:347-350
    • (1995) Nat Genet , vol.9 , pp. 347-350
    • Collins, F.S.1
  • 7
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré 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    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 8
    • 0024259844 scopus 로고
    • Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency
    • Endres W, Shin YS, Gunther R, Ibel H, Duran M, Wadman SK (1988) Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr 148: 246-249
    • (1988) Eur J Pediatr , vol.148 , pp. 246-249
    • Endres, W.1    Shin, Y.S.2    Gunther, R.3    Ibel, H.4    Duran, M.5    Wadman, S.K.6
  • 11
  • 12
    • 0028949897 scopus 로고
    • Isolation of two Arabidopsis cDNAs involved in early steps of molybdenum cofactor biosynthesis by functional complementation of Escherichia coli mutants
    • Hoff T, Schnorr KM, Meyer C, Caboche M (1995) Isolation of two Arabidopsis cDNAs involved in early steps of molybdenum cofactor biosynthesis by functional complementation of Escherichia coli mutants. J Biol Chem 270: 6100-6107
    • (1995) J Biol Chem , vol.270 , pp. 6100-6107
    • Hoff, T.1    Schnorr, K.M.2    Meyer, C.3    Caboche, M.4
  • 14
    • 0025835008 scopus 로고
    • Molybdenum cofactor biosynthesis in Escherichia coli
    • Johnson JL, Indermaur LW, Rajagopalan KV (1991a) Molybdenum cofactor biosynthesis in Escherichia coli. J Biol Chem 266:12140-12145
    • (1991) J Biol Chem , vol.266 , pp. 12140-12145
    • Johnson, J.L.1    Indermaur, L.W.2    Rajagopalan, K.V.3
  • 17
    • 0002451768 scopus 로고
    • Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) MacGraw-Hill, New York
    • Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th ed. MacGraw-Hill, New York, pp 2271-2283
    • (1995) The Metabolic and Molecular Basis of Inherited Disease, 7th Ed. , pp. 2271-2283
    • Johnson, J.L.1    Wadman, S.K.2
  • 18
    • 0019309811 scopus 로고
    • Inborn errors of molybdenum metabolism: Combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor
    • Johnson JL, Waud WR, Rajagopalan KV, Duran M, Beemer FA, Wadman SK (1980) Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci USA 77:3715-3719
    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 3715-3719
    • Johnson, J.L.1    Waud, W.R.2    Rajagopalan, K.V.3    Duran, M.4    Beemer, F.A.5    Wadman, S.K.6
  • 19
    • 0024565588 scopus 로고
    • Molybdenum cofactor biosynthesis in humans: Identification of two complementation groups in cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor
    • Johnson JL, Wuebbens MM, Mandell R, Shih VE (1989) Molybdenum cofactor biosynthesis in humans: identification of two complementation groups in cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J Clin Invest 83:897-903
    • (1989) J Clin Invest , vol.83 , pp. 897-903
    • Johnson, J.L.1    Wuebbens, M.M.2    Mandell, R.3    Shih, V.E.4
  • 20
    • 0028174952 scopus 로고
    • The Drosophila molybdenum cofactor gene cinnamon is homologous to three Escherichia coli cofactor proteins and to the rat protein gephyrm
    • Kamdar KP, Shelton ME, Finnerty V (1994) The Drosophila molybdenum cofactor gene cinnamon is homologous to three Escherichia coli cofactor proteins and to the rat protein gephyrm. Genetics 137:791-801
    • (1994) Genetics , vol.137 , pp. 791-801
    • Kamdar, K.P.1    Shelton, M.E.2    Finnerty, V.3
  • 21
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Boistein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Boistein, D.2
  • 23
    • 0029112185 scopus 로고
    • Defective molybdopterin biosynthesis: Clinical heterogeneity associated with molybdenum cofactor deficiency
    • Mize C, Johnson JL, Rajagopalan KV (1995) Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis 18:283-290
    • (1995) J Inherit Metab Dis , vol.18 , pp. 283-290
    • Mize, C.1    Johnson, J.L.2    Rajagopalan, K.V.3
  • 24
    • 0021033232 scopus 로고
    • Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family
    • Munnich A, Saudubray JM, Charpentier C, Ogier H, Coude FX, Frezal J (1983) Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: two additional cases in a new family. J Inherit Metab Dis Suppl 6:95-96
    • (1983) J Inherit Metab Dis Suppl , vol.6 , pp. 95-96
    • Munnich, A.1    Saudubray, J.M.2    Charpentier, C.3    Ogier, H.4    Coude, F.X.5    Frezal, J.6
  • 25
    • 17344368928 scopus 로고    scopus 로고
    • Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
    • Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, et al (1997) Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 61:1335-1341
    • (1997) Am J Hum Genet , vol.61 , pp. 1335-1341
    • Neufeld, E.J.1    Mandel, H.2    Raz, T.3    Szargel, R.4    Yandava, C.N.5    Stagg, A.6    Fauré, S.7
  • 26
    • 0024075833 scopus 로고
    • Cloning and sequencing of the Escherichia coli chlEN operon involved in molybdopterin biosynthesis
    • Nohno T, Kasai Y, Saito T (1988) Cloning and sequencing of the Escherichia coli chlEN operon involved in molybdopterin biosynthesis. J Bacteriol 170:4097-4102
    • (1988) J Bacteriol , vol.170 , pp. 4097-4102
    • Nohno, T.1    Kasai, Y.2    Saito, T.3
  • 27
    • 0026748781 scopus 로고
    • Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein
    • Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G, Beyreuther K, Werner P, et al (1992) Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. Neuron 8: 1161-1170
    • (1992) Neuron , vol.8 , pp. 1161-1170
    • Prior, P.1    Schmitt, B.2    Grenningloh, G.3    Pribilla, I.4    Multhaup, G.5    Beyreuther, K.6    Werner, P.7
  • 28
    • 0028851284 scopus 로고
    • Regulation of the molybdate transport operon, mode ABCD, of Escherichia coli in response to molybdenate availability
    • Rech S, Deppenmeier U, Gunsalus RP (1995) Regulation of the molybdate transport operon, mode ABCD, of Escherichia coli in response to molybdenate availability. J Bacteriol 177:1023-1029
    • (1995) J Bacteriol , vol.177 , pp. 1023-1029
    • Rech, S.1    Deppenmeier, U.2    Gunsalus, R.P.3
  • 29
    • 0023160151 scopus 로고
    • Cloning of seven differently complementing DNA fragments with chl functions from Escherichia coli K-12
    • Reiss J, Kleinhofs A, Klingmuller W (1987) Cloning of seven differently complementing DNA fragments with chl functions from Escherichia coli K-12. Mol Gen Genet 206:352-355
    • (1987) Mol Gen Genet , vol.206 , pp. 352-355
    • Reiss, J.1    Kleinhofs, A.2    Klingmuller, W.3
  • 30
    • 0027298448 scopus 로고
    • Molecular genetic analysis of the moa operon of Escherichia coli K-12 required for molybdenum cofactor biosynthesis
    • Rivers SL, McNairn E, Blasco F, Giordano G, Boxer DH (1993) Molecular genetic analysis of the moa operon of Escherichia coli K-12 required for molybdenum cofactor biosynthesis. Mol Microbiol 8:1071-1081
    • (1993) Mol Microbiol , vol.8 , pp. 1071-1081
    • Rivers, S.L.1    McNairn, E.2    Blasco, F.3    Giordano, G.4    Boxer, D.H.5
  • 33
    • 0026524275 scopus 로고
    • Friedreich ataxia in Louisiana Acadians: Demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes
    • Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL (1992) Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet 50: 559-566
    • (1992) Am J Hum Genet , vol.50 , pp. 559-566
    • Sirugo, G.1    Keats, B.2    Fujita, R.3    Duclos, F.4    Purohit, K.5    Koenig, M.6    Mandel, J.L.7
  • 35
    • 0029394803 scopus 로고
    • Molybdenum cofactor biosynthesis: The Arabidopsis thaliana cDNA cnx1 encodes a multifunctional two-domain protein homologous to a mammalian neuroprotein, the insect protein cinnamon and three Escherichia coli proteins
    • Stallmeyer B, Nerlich J, Schiemann J, Brinkmann H, Mendel RR (1995) Molybdenum cofactor biosynthesis: the Arabidopsis thaliana cDNA cnx1 encodes a multifunctional two-domain protein homologous to a mammalian neuroprotein, the insect protein cinnamon and three Escherichia coli proteins. Plant J 8:751-762
    • (1995) Plant J , vol.8 , pp. 751-762
    • Stallmeyer, B.1    Nerlich, J.2    Schiemann, J.3    Brinkmann, H.4    Mendel, R.R.5
  • 36
    • 0028801579 scopus 로고
    • Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas PM, Cote GJ, Hallman M, Mathew PM (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 56:416-421
    • (1995) Am J Hum Genet , vol.56 , pp. 416-421
    • Thomas, P.M.1    Cote, G.J.2    Hallman, M.3    Mathew, P.M.4
  • 37
    • 0000077098 scopus 로고
    • Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC
    • Krstulovic AM (ed) CRC Press, Boca Raton
    • van Gennip AH (1987) Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC. In: Krstulovic AM (ed) Handbook of chromatography: nucleic acids and related compounds. CRC Press, Boca Raton, pp 221-245
    • (1987) Handbook of Chromatography: Nucleic Acids and Related Compounds , pp. 221-245
    • Van Gennip, A.H.1
  • 38
    • 0029072344 scopus 로고
    • Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency
    • van Gennip AH, Mandel H, Stroomer LE, van Cruchten AG (1994) Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency. Adv Exp Med Biol 370:375-378
    • (1994) Adv Exp Med Biol , vol.370 , pp. 375-378
    • Van Gennip, A.H.1    Mandel, H.2    Stroomer, L.E.3    Van Cruchten, A.G.4
  • 39
    • 0030782440 scopus 로고    scopus 로고
    • Hypouricemia and molybdenum cofactor deficiency
    • Yurdakok M, Coskun T (1997) Hypouricemia and molybdenum cofactor deficiency. J Pediatr 130:162
    • (1997) J Pediatr , vol.130 , pp. 162
    • Yurdakok, M.1    Coskun, T.2


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