Understanding Carbamoyl-phosphate Synthetase I (CPS1) deficiency by using expression studies and structure-based analysis

Human Mutation

Volumn 31, Issue 7, 2010, Pages 801-808

  Pekkala, Satu ^a   Martínez, Ana I ^a   Barcelona, Belén ^a,b   Yefimenko, Igor ^c   Finckh, Ulrich ^d   Rubio, Vicente ^b,c   Cervera, Javier ^a,b  

^a CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^d Dr Eberhard and Partner   (Germany)

Author keywords

Baculovirus expression system; CPS1 deficiency; CPS1 site directed mutagenesis; CPS1 structure; Hyperammonemia; Inborn errors; Urea cycle diseases

Indexed keywords

BICARBONATE; CARBAMOYL PHOSPHATE SYNTHASE; N ACETYLGLUTAMIC ACID; ACEGLUTAMIDE; GLUTAMINE; MUTANT PROTEIN; RECOMBINANT PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; GENE ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; GENETIC POLYMORPHISM; GENETIC STABILITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; ANALOGS AND DERIVATIVES; ANIMAL; BINDING SITE; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; ENZYME SPECIFICITY; ENZYME STABILITY; ENZYMOLOGY; GENETICS; KINETICS; METABOLISM; MUTATION; PROTEIN FOLDING; PROTEIN TERTIARY STRUCTURE; RAT; SITE DIRECTED MUTAGENESIS; SPODOPTERA; STRUCTURE ACTIVITY RELATION; TEMPERATURE;

ANIMALS; BINDING SITES; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CELL LINE; ENZYME STABILITY; GLUTAMINE; HUMANS; KINETICS; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; MUTATION; POLYMORPHISM, GENETIC; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RATS; RECOMBINANT PROTEINS; SPODOPTERA; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY; TEMPERATURE;

HEXAPODA;

EID: 77954106335     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21272     Document Type: Article

References (48)

1. Ahuja V, Powers-Lee SG. 2008. Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism. J Inherit Metab Dis 31:481-491.
2. Alonso E, Rubio V. 1983. Binding of N-acetyl-L-glutamate to rat liver carbamoyl phosphate synthetase (ammonia). Eur J Biochem 135:331-337.
3. Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T. 2001. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Hum Hered 52:99-101. (Pubitemid 32710239)
4. Bradford MM. 1976. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254.
5. Brusilow SW, Horwich AL. 2001. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; Child B, Kinzler KW, Vogelstein B, associated editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill. Vol 2, p 1909-1963.
6. Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M, Tuchman M. 2004. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr 145:552-554. (Pubitemid 39345996)
7. Czerwinski RM, Mareya SM, Raushel FM. 1995. Regulatory changes in the control of carbamoyl-phosphate synthetase induced by truncation and mutagenesis of the allosteric binding domain. Biochemistry 34:13920-13927.
8. Delannay S, Charlier D, Tricot C, Villeret V, Pierard A, Stalon V. 1999. Serine 948 and threonine 1042 are crucial residues for allosteric regulation of Escherichia coli carbamoylphosphate synthetase and illustrate coupling effects of activation and inhibition pathways. J Mol Biol 286:1217-1228.
9. Eather G, Coman D, Landen C, McGill J. 2006. Carbamoyl phosphate synthetase deficiency: diagnosed during pregnancy in a 41-year-old. J Clin Neurosci 13:702-706. (Pubitemid 44066806)
10. Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. 2006. The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Mol Genet Metab 89:80-86. (Pubitemid 44205469)
11. Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A. 1998. Prenatal diagnosis of carbamoyl-phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum Mutat 12:206-211. (Pubitemid 28384592)
12. Fresquet V, Mora P, Rochera L, Ramón-Maiques S, Rubio V, Cervera J. 2000. Site-directed mutagenesis of the regulatory domain of Escherichia coli carbamoylphosphate synthetase identifies crucial residues for allosteric regulation and for transduction of the regulatory signals. J Mol Biol 299:979-991.
13. Funghini S, Donati MA, Pasquini E, Zammarchi E, Morrone A. 2003. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum Mutat 22:340-341.
14. Garcia-España A, Alonso E, Rubio V. 1991. Influence of anions on the activation of carbamoyl-phosphate synthetase (ammonia) by acetylglutamate: implications for the activation of the enzyme in the mitochondria. Arch Biochem Biophys 288:414-420.
15. Guthohrlein G, Knappe J. 1968. Structure and function of carbamoylphosphate synthase. I. Transitions between two catalytically inactive forms and the active form. Eur J Biochem 7:119-127.
16. Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG. 2003. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat 21:444.
17. Haraguchi Y, Uchino T, Takiguchi M, Endo F, Mori M, Matsuda I. 1991. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia. Gene 107:335-340.
18. Kim J, Raushel FM. 2004. Perforation of the tunnel wall in carbamoyl-phosphate synthetase derails the passage of ammonia between sequential active sites. Biochemistry 43:5334-5340. (Pubitemid 38620925)
19. Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. 2007. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. J Hum Genet 52:349-354.
20. Laemmli UK. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.
21. Lim AL, Powers-Lee SG. 1997. Critical roles for arginine 1061/1060 and tyrosine 1057 in Saccharomyces cerevisiae arginine-specific carbamoyl-phosphate synthetase. Arch Biochem Biophys 339:344-352.
22. Lusty CJ. 1983. The molecular structure and functions of carbamoyl-phosphate synthetase I. Trans N Y Acad Sci 41:103-115.
23. Marshall M, Fahien LA. 1988. Proteolysis as a probe of ligand-associated conformational changes in rat carbamyl phosphate synthetase I. Arch Biochem Biophys 262:455-470.
24. Meister A. 1989. Mechanism and regulation of the glutamine-dependent carbamyl phosphate synthetase of Escherichia coli. Adv Enzymol Relat Areas Mol Biol 62:315-374.
25. Metzenberg RL, Marshall M, Cohen PP. 1958. Carbamyl phosphate synthetase: studies on the mechanism of action. J Biol Chem 233:1560-1564.
26. Moonen RM, Paulussen AD, Souren NY, Kessels AG, Rubio-Gozalbo ME, Villamor E. 2007. Carbamoyl-phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. Pediatr Res 62:188-190. (Pubitemid 47205720)
27. Nuzum CT, Snodgrass PJ. 1976. Multiple assays of five urea-cycle enzymes in human liver homogenates. In: Grisolia S, Báguena R, Mayor F, editors. The urea cycle. New York: John Wiley and Sons. p 325-349.
28. Nyunoya H, Broglie KE,Widgren EE, Lusty CJ. 1985. Characterization and derivation of the gene coding for mitochondrial carbamyl phosphate synthetase I of rat. J Biol Chem 260:9346-9356. (Pubitemid 16238317)
29. Pearson DL, Dawling S, Walsh WF, Haines JL, Christman BW, Bazyk A, Scott N, Summar ML. 2001. Neonatal pulmonary hypertension - urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med 344:1832-1838. (Pubitemid 32538696)
30. Pekkala S, Martinez AI, Barcelona B, Gallego J, Bendala E, Yefimenko I, Rubio V, Cervera J. 2009. Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl-phosphate synthetase1. Biochem J 424:211-220.
31. Rubio V. 1993. Structure-function studies in carbamoyl-phosphate synthetases. Biochem Soc Trans 21:198-202.
32. Rubio V. 1994. Structure-activity correlations in carbamoyl-phosphate synthetases. In: Brändén CI, Schneider G, editors. Carbon dioxide fixation and reduction in biological and model systems. New York: Oxford University Press. p 249-264.
33. Rubio V, Britton HG, Grisolia S. 1983. Mitochondrial carbamoyl-phosphate synthetase activity in the absence of N-acetyl-L-glutamate. Mechanism of activation by this cofactor. Eur J Biochem 134:337-343.
34. Rubio V, Cervera J. 1995. The carbamoyl-phosphate synthase family and carbamate kinase: structure-function studies. Biochem Soc Trans 23:879-883.
35. Rubio V, Grisolía S. 1981. Treating urea cycle defects. Nature 292:496.
36. Rubio V, Ramponi G, Grisolia S. 1981. Carbamoyl-phosphate synthetase I of human liver. Purification, some properties and immunological cross-reactivity with the rat liver enzyme. Biochim Biophys Acta 659:150-160.
37. Shih VE. 1976. Hereditary urea-cycle disorders. In: Grisolia S, Báguena R, Mayor F, editors. The urea cycle. New York: John Wiley and Sons. p 367-414.
38. Siess EA, Brocks DG, Wieland OH. 1982. Subcellular distribution of adenine nucleotides and of metabolites of tricarboxylate cycle and gluconeogenesis in hepatocytes. In: Siess H, editor. Metabolic compatmentation. London: Academic Press. p 235-257.
39. Summar ML. 1998. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers. J Inherit Metab Dis 21(Suppl 1): 30-39. (Pubitemid 28344690)
40. Summar ML, Dasouki MJ, Schofield PJ, Krishnamani MRS, Vnencak-Jones C, Tuchman M, Mao J, Phillips 3rd JA. 1995. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Cytogenet Cell Genet 71:266-267.
41. Summar ML, Gainer JV, Pretorius M, Malave H, Harris S, Hall LD, Weisberg A, Vaughan DE, Christman BW, Brown NJ. 2004. Relationship between carbamoylphosphate synthetase genotype and systemic vascular function. Hypertension 43:186-191. (Pubitemid 38174172)
42. Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. 2003. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene 311:51-57. (Pubitemid 36830801)
43. Tatibana M, Shigesada K. 1976. Regulation of urea biosynthesis by the acetylglutamate- arginine system. In: Grisolia S, Báguena R, Mayor F, editors. The urea cycle. New York: John Wiley and Sons. p 301-313.
44. Tatibana M, Shigesada K, Mori M. 1976. Acetylglutamate synthase. In: Grisolia S, Báguena R, Mayor F, editors. The urea cycle. New York: John Wiley and Sons. p 95-105.
45. Thoden JB, Holden HM, Wesenberg G, Raushel FM, Rayment I. 1997. Structure of carbamoyl phosphate synthetase: a journey of 96 Å from substrate to product. Biochemistry 36:6305-6316. (Pubitemid 27231386)
46. van den Hoff MJ, Jonker A, Beintema JJ, Lamers WH. 1995. Evolutionary relationships of the carbamoylphosphate synthetase genes. J Mol Evol 41:813-832. (Pubitemid 26020059)
47. Xie Y, Ihsanawati, Kishishita S, Murayama K, Takemoto C, Shirozu M, Yokoyama S. RIKEN Structural Genomics/Proteomics Initiative (RSGI). 2008. Crystal structure of MGS domain of carbamoyl-phosphate synthetase from Homo sapiens. Protein Databank file 2yvq. http://www.rcsb.org
48. Yefimenko I, Fresquet V, Marco-Marín C, Rubio V, Cervera J. 2005. Understanding carbamoyl-phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality. J Mol Biol 349:127-141. (Pubitemid 40616453)