Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Journal of Human Genetics

Volumn 50, Issue 12, 2005, Pages 648-654

  Lee, Sook Jin ^a,b   Lee, Dong Hwan ^c   Yoo, Han Wook ^d   Koo, Soo Kyung ^a   Park, Eun Sook ^e   Park, Joo Won ^f   Lim, Hun Gil ^b   Jung, Sung Chul ^f  

^a Korea National Institute of Health   (South Korea)

^b Hanyang University   (South Korea)

^c Soonchunhyang University   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

^e Yonsei University College of Medicine   (South Korea)

^f Ewha Womans University School of Medicine   (South Korea)

Author keywords

CBS; Cystathionine beta synthase; Expression; Functional analysis; Homocystinuria; Korean; Mutation

Indexed keywords

MUTANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENE VECTOR; GENETIC IDENTIFICATION; HETEROZYGOSITY; HOMOCYSTINURIA; HUMAN; HUMAN CELL; LENS LUXATION; MAMMAL CELL; SINGLE NUCLEOTIDE POLYMORPHISM; VASCULAR DISEASE; WILD TYPE;

ANIMALS; CERCOPITHECUS AETHIOPS; CLONING, MOLECULAR; COS CELLS; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; GENOTYPE; HOMOCYSTINURIA; HUMANS; KOREA; MICE; NIH 3T3 CELLS; PHENOTYPE;

MAMMALIA;

EID: 28844436017     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0312-2     Document Type: Article

References (25)

1. Chasse JF, Paly E, Paris D, Paul V, Sinet PM, Kamoun P, London J (1995) Genomic organization of the human cystathionine β-synthase: evidence for various cDNAs. Biochem Biophys Res Commun 211:826-832
2. Chen S, Ito M, Saijo T, Naito E, Kuroda Y (1999) Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period. J Med Invest 46:186-191
3. 6-nonresponsive homocystinuria. Eur J Hum Genet 5:15-21
4. de Franchis R, Kraus E, Kozich V, Sebastio G, Kraus JP (1999) Four novel mutations in the cystathionine β-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat 13:453-457
5. Engbersen AM, Franken DG, Boers GH, Stevens EM, Trijbels FJ, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56:142-150
6. Gaustadnes M, Ingerslev J, Rutiger N (1999) Prevalence of congenital homocystinuria in Denmark. N Engl J Med 340:1513
7. Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE (2002) The molecular basis of cystathionine β-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat 20:117-126
8. Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE (1993) Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet 2:1857-1860
9. Jhee KH, McPhie P, Miles EW (2000) Yeast cystathionine β-synthase is a pyridoxal phosphate enzyme but, unlike the human enzyme, is not a heme protein. J Biol Chem 275:11541-11544
10. Kim HB, You JC (2004) The upstream sequence of Mycobacterium leprae 18-kDa gene confers transcription repression activity in orientation-independent manner. Exp Mol Med 36:510-514
11. Kozich V, Kraus JP (1992) Screening for mutation by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine β-synthase deficiency. Hum Mutat 1:113-123
12. Kraus JP (1994) Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 17:383-390
13. Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M (1999) Cystathionine β- synthase mutation in homocystinuria. Hum Mutat 13:362-375
14. Kraus JP, Oliveriusova J, Sokolova J, Kraus E, Vlcek C, de Franchis R, Maclean KN, Bao L, Bukovsk, Patterson D, Paces V, Ansorge W, Kozich V (1998) The human cystathionine β-synthase gene: complete sequence, alternative splicing, and polymorphisms. Genomics 52:312-324
15. Kruger WD, Wang L, JHee KH, Singh RH, Elsas LJ II (2003) Cystathionine β synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. Hum Mutat 22:2434-2441
16. Miles EW, Kraus JP (2004) Cystathionine β-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem 279:29871-29874
17. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L (1985) The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 37:1-31
18. Munke M, Kraus JP, Ohura T, Francke U (1988) The gene of cystathionine β- synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet 42:550-559
19. Naughten E, Yap S, Mayne PD (1998) Newborn screening for homocystinuria: Irish and world experience. Eur J Pediatr 157(Suppl 2):S84-S87
20. Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G (1995) Molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 56:1324-1333
21. Shan X, Kruger WD (1998) Correction of disease causing CBS mutations in yeast. Nat Genet 19:91-93
22. Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, Kuroda Y, Yamashita F, Matsuda I, Naruse H (1984) Follow up of a nationwide neonatal metabolic screening program in Japan. Eur J Pediatr 142:204-207
23. Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY (1995) Molecular mechanisms of inborn error of methionine pathway. Methionine adenosyltransferase deficiency. J Clin Invest 96:1943-1947
24. 6-nonresponsive cystathionine β-synthase deficiency and differing blood methionine levels during neonatal period. J Med Invest 44:95-97
25. Zhang G, Dai C (2001) Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases. Thromb Res 104:187-195