Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3

European Journal of Human Genetics

Volumn 15, Issue 3, 2007, Pages 347-351

  Fumić, Ksenija ^a,b   Belužić, Robert ^b   Ćuk, Mario ^c   Pavkov, Tea ^d   Kloor, Doris ^e   Barić, Ivo ^c   Mijić, Ivana ^b   Vugrek, Oliver ^b  

^a KBC Zagreb   (Croatia)

^b RUDER BO KOVI INSTITUTE   (Croatia)

^c UNIVERSITY OF ZAGREB   (Croatia)

^d UNIVERSITY OF GRAZ   (Austria)

^e UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ADENOSINE; ADENOSYLHOMOCYSTEINASE; ADENOSYLHOMOCYSTEINASE 2; ADENOSYLHOMOCYSTEINASE 3; ADENOSYLHOMOCYSTEINASE 4; ARGININE; CYTOSINE; GLYCINE; GUANINE; HOMOCYSTEINE; RECOMBINANT ENZYME; THYMINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR DISEASE; CATALYSIS; CIRCULAR DICHROISM; CONTROLLED STUDY; DISEASE MARKER; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME MECHANISM; ENZYME METABOLISM; ENZYME PURIFICATION; EXON; GENETIC POLYMORPHISM; HUMAN; HYDROLYSIS; HYPERHOMOCYSTEINEMIA; IN VITRO STUDY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN FOLDING; THERMOSTABILITY; WILD TYPE;

ADENOSYLHOMOCYSTEINASE; AMINO ACID SUBSTITUTION; CIRCULAR DICHROISM; ENZYME STABILITY; HEAT; HUMANS; ISOENZYMES;

EID: 33847221841     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201757     Document Type: Article

References (22)

1. Gellekink H, den Heijer M, Kluijtmans LAJ et al: Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis. Eur J Hum Genet 2004; 12: 942-948.
2. Castro R, Rivera I, Blom HJ et al: Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview. J Inherit Metab Dis 2006; 29: 3-20.
3. Prigge ST, Chiang PK: S-adenosylhomocysteine hydrolase. in Carmel R, Jacobsen DW (eds): Homocysteine in Health and Disease. USA: Cambridge University Press, 2001, pp 79-90.
4. Loscalzo J: Homocysteine trials - clear outcomes for complex reasons. N Engl J Med 2006; 354: 1629-1632.
5. Dela Haba G, Cantoni GL: The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine. J Biol Chem 1959; 234: 603-608.
6. Coulter-Karis DE, Hershfield MS: Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase. Ann Hum Genet 1989; 53: 169-175.
7. Palmer JL, Abeles RH: Mechanism for enzymatic thioether formation: mechanism of action of S-adenosylhomocysteinase. J Biol Chem 1976; 251: 5817-5819.
8. Turner MA, Yuan CS, Borchardt RT et al: Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength. Nat Struct Biol 1998; 5: 369-376.
9. Yamada T, Takata Y, Komoto J et al: Catalytic mechanism of S-adenosylhomocysteine hydrolase: Roles of His 54, Asp130, Glu155, Lys185, and Asp189. Int J Biochem Cell Biol 2002; 37: 2417-2435.
10. Barić I, Fumić K, Glenn B et al: S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 2004; 101: 4234-4239.
11. Barić, I, Ćuk M, Fumić K et al: S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy. J Inh Metah Dis 2005; 28: 885-902.
12. Buist NRM, Glenn B, Vugrek O et al: S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. J Inh Metab Dis 2006; 29: 538-545.
13. Kloor D, Fumić K, Attig S et al: Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population. J Hum Genet 2006; 51: 21-24.
14. Belužić R, Ćuk M, Pavkov T et al: A single mutation at tyrosine 143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and effects the oxidation state of bound co-factor NAD. Biochem J 2006; 400: 245-253.
15. Takata Y, Yamada T, Huang Y et al: Catalytic mechanism of S-adenosylhomocysteine hydrolase: Site-directed mutagenesis of Asp-130, Lys-185, Asp-189, and Asn-190. J Biol Chem 2002; 277: 22670-22676.
16. +. Proc Natl Acad Sci USA 1985; 82: 4578-4581.
17. Guex N, Peitsch MC: SWISS-MODELAand the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18: 2714-2723.
18. Matuszewska B, Borchardt RT: The role of nicotinamide adenine dinucleotide in the inhibition of bovine liver S-adenosylhomocysteine hydrolase by Neplanocin A. J Biol Chem 1987; 262: 265-268.
19. Gomi T, Date T, Ogawa H et al: Expression of rat liver S-adenosylhomocysteinase cDNA in Escherichia coli and mutagenesis at the putative NAD binding site. J Biol Chem 1989; 264: 16138-16142.
20. Ault-Riche DB, Yuan CS, Borchardt RT: A single mutation at lysine 426 of human placental S-adenosylhomocysteine hydrolase inactivates the enzyme. J Biol Chem 1994; 269: 31472-31478.
21. Abeles RH, Fish S, LMpinskas B: S-adenosylhomocysteinase: mechanism of inactivation by 2'-deoxyadenosine and interaction with other nucleosides. Biochemistry 1982; 21: 5557-5562.
22. Corbo RM, Ingianna R, Scacchi R, Bozzi A: Kinetic properties of the common electrophoretic variants of human S-adenosylhomocysteine hydrolase (AHCY): The effect of four nucleoside analogue inhibitors. Ann Hum Genet 1992; 56: 35-43.