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Volumn 101, Issue 1, 1997, Pages 69-74

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROLINE DEHYDROGENASE; TRITIUM;

EID: 0031468232     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050589     Document Type: Article
Times cited : (30)

References (30)
  • 1
    • 0021889481 scopus 로고
    • High proline levels in the brains of mice as related to specific learning deficits
    • Baxter CF, Baldwin RA, Davis JL, Flood JF (1985) High proline levels in the brains of mice as related to specific learning deficits. Pharmacol Biochem Behav 22: 1053-1059
    • (1985) Pharmacol Biochem Behav , vol.22 , pp. 1053-1059
    • Baxter, C.F.1    Baldwin, R.A.2    Davis, J.L.3    Flood, J.F.4
  • 3
    • 0017132332 scopus 로고
    • Mitochondrial proline de-hyperbolizehydrogenase deficiency in hyperprolinemic PRO/Re mice: Genetic and enzymatic analyses
    • Blake RL, Hall JG, Russell ES (1976) Mitochondrial proline de-hyperbolizehydrogenase deficiency in hyperprolinemic PRO/Re mice: genetic and enzymatic analyses. Biochem Genet 14: 739-757
    • (1976) Biochem Genet , vol.14 , pp. 739-757
    • Blake, R.L.1    Hall, J.G.2    Russell, E.S.3
  • 4
    • 0024400704 scopus 로고
    • Isolation of a cDNA clone and localization of the human glutathione-S-transferase 3 genes to chromosome bands 11q13 and 12q13-14
    • Board PG, Webb GC, Coggan M (1989) Isolation of a cDNA clone and localization of the human glutathione-S-transferase 3 genes to chromosome bands 11q13 and 12q13-14. Ann Hum Genet 53: 205-213
    • (1989) Ann Hum Genet , vol.53 , pp. 205-213
    • Board, P.G.1    Webb, G.C.2    Coggan, M.3
  • 5
    • 0021103457 scopus 로고
    • Random subcloning of sonicated DNA: Application to shotgun DNA sequence analysis
    • Deininger P (1983) Random subcloning of sonicated DNA: application to shotgun DNA sequence analysis. Anal Biochem 129: 216-223
    • (1983) Anal Biochem , vol.129 , pp. 216-223
    • Deininger, P.1
  • 6
    • 0021760092 scopus 로고
    • A comprehensive set of sequence analysis programs for the VAX
    • Devereux J, Haeberli P, Smithies O (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res 12: 387-395
    • (1984) Nucleic Acids Res , vol.12 , pp. 387-395
    • Devereux, J.1    Haeberli, P.2    Smithies, O.3
  • 7
    • 0040611143 scopus 로고
    • Familial hyperprolinemia. Report of a second case, associated with congenital renal malformations, hereditary hematuria and mild mental retardation, with demonstration of an enzyme defect
    • Efron M (1965) Familial hyperprolinemia. Report of a second case, associated with congenital renal malformations, hereditary hematuria and mild mental retardation, with demonstration of an enzyme defect. N Engl J Med 272: 1243-1254
    • (1965) N Engl J Med , vol.272 , pp. 1243-1254
    • Efron, M.1
  • 9
    • 0022500196 scopus 로고
    • Catalytic transfer of hydride ions from NADPH to oxygen by the interconversions of proline and delta 1-pyrroline-5-carboxylate
    • Hagedorn CH, Phang JM (1986) Catalytic transfer of hydride ions from NADPH to oxygen by the interconversions of proline and delta 1-pyrroline-5-carboxylate. Arch Biochem Biophys 248: 166-174
    • (1986) Arch Biochem Biophys , vol.248 , pp. 166-174
    • Hagedorn, C.H.1    Phang, J.M.2
  • 10
    • 0027411221 scopus 로고
    • The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis
    • Hayward DC, Delaney SJ, Campbell HD, Ghysen A, Benzer S, Kasprzak AB, Cotsell JN, Young IG, Miklos GLG (1993) The sluggish-A gene of Drosophila melanogaster is expressed in the nervous system and encodes proline oxidase, a mitochondrial enzyme involved in glutamate biosynthesis. Proc Natl Acad Sci USA 90: 2979-2983
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 2979-2983
    • Hayward, D.C.1    Delaney, S.J.2    Campbell, H.D.3    Ghysen, A.4    Benzer, S.5    Kasprzak, A.B.6    Cotsell, J.N.7    Young, I.G.8    Miklos, G.L.G.9
  • 11
    • 0025891865 scopus 로고
    • Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11
    • Herzog R, Lutz S, Blin N, Marasa JC, Blinder MA, Tollefsen DM (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. Biochemistry 30: 1350-1357
    • (1991) Biochemistry , vol.30 , pp. 1350-1357
    • Herzog, R.1    Lutz, S.2    Blin, N.3    Marasa, J.C.4    Blinder, M.A.5    Tollefsen, D.M.6
  • 13
    • 0029933685 scopus 로고    scopus 로고
    • Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: Evidence for a contiguous gene syndrome locating the proline oxidase gene
    • Jaeken J, Goemans N, Fryns J-P, François I, de Zegher F (1996) Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 19: 275-277
    • (1996) J Inherit Metab Dis , vol.19 , pp. 275-277
    • Jaeken, J.1    Goemans, N.2    Fryns, J.-P.3    François, I.4    De Zegher, F.5
  • 16
    • 0026605766 scopus 로고
    • A simple method for simultaneous R- Or G-banding and fluorescence in situ hybridization of small single-copy genes
    • Lemieux N, Dutrillaux B, Viegas-Pequignot E (1992) A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes. Cytogenet Cell Genet 59: 311-312
    • (1992) Cytogenet Cell Genet , vol.59 , pp. 311-312
    • Lemieux, N.1    Dutrillaux, B.2    Viegas-Pequignot, E.3
  • 17
    • 0028117603 scopus 로고
    • 1-pyrroline-5-carboxylate de-hydrogenase domains of the multifunctional Escherichia coli PutA protein
    • 1-pyrroline-5-carboxylate de-hydrogenase domains of the multifunctional Escherichia coli PutA protein. J Mol Biol 243: 950-956
    • (1994) J Mol Biol , vol.243 , pp. 950-956
    • Ling, M.1    Allen, S.W.2    Wood, J.M.3
  • 18
    • 0027500344 scopus 로고
    • Autogenous regulation of gene expression
    • Maloy S, Stewart V (1993) Autogenous regulation of gene expression. J Bacteriol 175: 307-316
    • (1993) J Bacteriol , vol.175 , pp. 307-316
    • Maloy, S.1    Stewart, V.2
  • 19
    • 0017256306 scopus 로고
    • Hyperprolinaemia: A disease which does not need treatment?
    • Mollica F, Pavone L (1976) Hyperprolinaemia: a disease which does not need treatment? Acta Paediatr Scand 65: 206-208
    • (1976) Acta Paediatr Scand , vol.65 , pp. 206-208
    • Mollica, F.1    Pavone, L.2
  • 20
    • 0023941735 scopus 로고
    • Toxicity of L-proline toward rat hippocampal neurons
    • Nadler JV, Wang A, Hakim A (1988) Toxicity of L-proline toward rat hippocampal neurons. Brain Res 456: 168-172
    • (1988) Brain Res , vol.456 , pp. 168-172
    • Nadler, J.V.1    Wang, A.2    Hakim, A.3
  • 21
    • 0023275679 scopus 로고
    • Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality
    • Oyanagi K, Tsuchiyama A, Itakura Y, Tamura Y, Nakao T, Fujita S, Shiono H (1987) Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. Tohoku J Exp Med 151: 465-475
    • (1987) Tohoku J Exp Med , vol.151 , pp. 465-475
    • Oyanagi, K.1    Tsuchiyama, A.2    Itakura, Y.3    Tamura, Y.4    Nakao, T.5    Fujita, S.6    Shiono, H.7
  • 22
    • 0029853761 scopus 로고    scopus 로고
    • Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
    • Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ (1996) Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 153: 1541-1547
    • (1996) Am J Psychiatry , vol.153 , pp. 1541-1547
    • Papolos, D.F.1    Faedda, G.L.2    Veit, S.3    Goldberg, R.4    Morrow, B.5    Kucherlapati, R.6    Shprintzen, R.J.7
  • 23
    • 0025360581 scopus 로고
    • The mitochondrial protein import apparatus
    • Pfanner N, Neupert W (1990) The mitochondrial protein import apparatus. Annu Rev Biochem 59: 331-353
    • (1990) Annu Rev Biochem , vol.59 , pp. 331-353
    • Pfanner, N.1    Neupert, W.2
  • 25
    • 0002793287 scopus 로고
    • Computer handling of DNA sequencing projects
    • Bishop MJ, Rawlings CJ (eds). IRL Press, Oxford
    • Staden R (1987) Computer handling of DNA sequencing projects. In: Bishop MJ, Rawlings CJ (eds) Nucleic acid and protein sequence analysis: a practical approach. IRL Press, Oxford, pp 173-217
    • (1987) Nucleic Acid and Protein Sequence Analysis: A Practical Approach , pp. 173-217
    • Staden, R.1
  • 26
    • 0024420052 scopus 로고
    • Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship?
    • Steinlin M, Boltshauser E, Steinmann B, Wichmann W, Niemeyer G (1989) Hyperprolinaemia type I and white matter disease: coincidence or causal relationship? Eur J Pediatr 149: 40-42
    • (1989) Eur J Pediatr , vol.149 , pp. 40-42
    • Steinlin, M.1    Boltshauser, E.2    Steinmann, B.3    Wichmann, W.4    Niemeyer, G.5
  • 28
    • 0029775630 scopus 로고    scopus 로고
    • Environmental and developmental signals modulate proline homeostasis: Evidence for a negative transcriptional regulator
    • Verbruggen N, Hua X-J, May M, Montagu M Van (1996) Environmental and developmental signals modulate proline homeostasis: evidence for a negative transcriptional regulator. Proc Natl Acad Sci USA 93: 8787-8791
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 8787-8791
    • Verbruggen, N.1    Hua, X.-J.2    May, M.3    Van Montagu, M.4
  • 29
    • 0022751238 scopus 로고
    • Proline utilization in Saccharomyces cerevisiae: Analysis of the cloned PUT1 gene
    • Wang S-S, Brandriss MC (1986) Proline utilization in Saccharomyces cerevisiae: analysis of the cloned PUT1 gene. Mol Cell Biol 6: 2638-2645
    • (1986) Mol Cell Biol , vol.6 , pp. 2638-2645
    • Wang, S.-S.1    Brandriss, M.C.2
  • 30
    • 0023504986 scopus 로고
    • Proline utilization in Saccharomyces cerevisiae: Sequence, regulation, and mitochondrial localization of the PUT1 gene product
    • Wang S-S, Brandriss MC (1987) Proline utilization in Saccharomyces cerevisiae: sequence, regulation, and mitochondrial localization of the PUT1 gene product. Mol Cell Biol 7: 4431-4440
    • (1987) Mol Cell Biol , vol.7 , pp. 4431-4440
    • Wang, S.-S.1    Brandriss, M.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.