Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

2001 ◽  
Vol 52 (2) ◽  
pp. 99-101 ◽  
Author(s):  
Tsutomu Aoshima ◽  
Mitsuharu Kajita ◽  
Yoshitaka Sekido ◽  
Satoshi Kikuchi ◽  
Izumi Yasuda ◽  
...  
Keyword(s):  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Novel Mutations ◽  
I Gene

scholarly journals The Far-upstream Enhancer of the Carbamoyl-phosphate Synthetase I Gene Is Responsible for the Tissue Specificity and Hormone Inducibility of Its Expression

1995 ◽  
Vol 270 (42) ◽  
pp. 24932-24940 ◽  
Author(s):  
Vincent M. Christoffels ◽  
Maurice J. B. van den Hoff ◽  
Antoon F. M. Moorman ◽  
Wouter H. Lamers
Keyword(s):  
Tissue Specificity ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
I Gene

Involvement of a cis-Acting Element in the Suppression of Carbamoyl Phosphate Synthetase I Gene Expression in the Liver of Carnitine-Deficient Mice

1999 ◽  
Vol 68 (3) ◽  
pp. 346-356 ◽  
Author(s):  
Dewan Md. Abdullah Abu Musa ◽  
Keiko Kobayashi ◽  
Izumi Yasuda ◽  
Mikio Iijima ◽  
Vincent M. Christoffels ◽  
...  
Keyword(s):  
Gene Expression ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Cis Acting ◽  
Deficient Mice ◽  
I Gene

scholarly journals The Upstream Regulatory Region of the Carbamoyl-phosphate Synthetase I Gene Controls Its Tissue-specific, Developmental, and Hormonal Regulationin Vivo

1996 ◽  
Vol 271 (49) ◽  
pp. 31243-31250 ◽  
Author(s):  
Vincent M. Christoffels ◽  
Maurice J. B. van den Hoff ◽  
Marinus C. Lamers ◽  
Marian A. van Roon ◽  
Piet A. J. de Boer ◽  
...  
Keyword(s):  
Regulatory Region ◽  
Upstream Regulatory Region ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Tissue Specific ◽  
I Gene

Molecular studies on an ancient gene encoding for carbamoyl-phosphate synthetase

1993 ◽  
Vol 84 (2) ◽  
pp. 119-128 ◽  
Author(s):  
J. P. Schofield
Keyword(s):  
Large Subunit ◽  
Methanosarcina Barkeri ◽  
Cosmid Library ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Gene Encoding ◽  
Ancestral Gene ◽  
Carbamoylphosphate Synthetase ◽  
Old Evidence ◽  
I Gene

1. Carbamoyl-phosphate synthetase (EC 6.3.5.5.) catalyses the synthesis of carbamoyl phosphate, the immediate precursor of arginine and pyrimidine biosynthesis, and is highly conserved throughout evolution. The large subunit of all carbamoyl-phosphate synthetases sequenced to date comprises two highly homologous halves, the product of a proposed ancestral gene duplication. The sequences of the enzymes of Escherichia coli, Drosophila melanogaster, Saccharomyces cerevisiae, rat and Syrian hamster all have duplications, suggesting that this event occurred in the progenote predating the separation of the major phylae. Until now, only limited data on carbamoyl-phosphate synthetase were available for the primitive eukaryote Dictyostelium discoideum and for the Archaea Methanosarcina barkeri MS. The DNA sequence of the D. discoideum carbamoylphosphate gene and additional sequence for the carbamoyl-phosphate synthetase gene of M. barkeri MS have been determined, and a duplicated structure for both is clearly demonstrated. 2. Genes with ancient duplications provide unique information on their evolution. A study of the intron/exon organization of the rat carbamoylphosphate synthetase I gene and the carbamoylphosphate synthetase hamster II gene in the CAD multi-gene complex shows that at least some of their introns are very old. Evidence is provided that some introns must have been present in the ancestral precursor before its duplication. 3. The human carbamoyl-phosphate synthetase I gene has been isolated and characterized. A human liver cDNA library was constructed and probed for carbamoyl-phosphate synthetase I. A human genomic DNA cosmid library was also probed for the carbamoyl-phosphate synthetase I gene. The cDNA sequence of the human carbamoyl-phosphate synthetase I gene has been determined, and work has been initiated to confirm that at least part of this gene is contained within two cosmids spanning 46 kb. This will enable future studies to be made on mutations in this gene in the rare autosomal recessive deficiency of carbamoyl-phosphate synthetase I.

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

scholarly journals Product inhibition studies on bovine liver carbamoyl phosphate synthetase

1974 ◽  
Vol 141 (3) ◽  
pp. 817-824 ◽  
Author(s):  
Keith R. F. Elliott ◽  
Keith F. Tipton
Keyword(s):  
Inorganic Phosphate ◽  
Substrate Binding ◽  
Inorganic Ions ◽  
Bovine Liver ◽  
Product Inhibition ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Product Release ◽  
Proposed Model ◽  
Inhibition Studies

A study of the product-inhibition patterns of carbamoyl phosphate synthetase from bovine liver is reported. Inhibition by adenosine, AMP and inorganic ions is also reported. The results are in agreement with the previously proposed model in which the order of substrate binding is ATPMg, followed by HCO3−, ATPMg and NH4+. The order of product release on the basis of the reported results is carbamoyl phosphate, followed by ADPMg, ADPMg and inorganic phosphate.

Inactivation by acivicin of carbamoyl-phosphate synthetase II of human colon carcinoma

1985 ◽  
Vol 34 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Judith S. Sebolt ◽  
Takashi Aoki ◽  
John N. Eble ◽  
John L Glover ◽  
George Weber
Keyword(s):  
Colon Carcinoma ◽  
Human Colon ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Human Colon Carcinoma

Spatial relationships among the active and allosteric sites of carbamoyl-phosphate synthetase

1985 ◽  
Vol 13 (2) ◽  
pp. 98-109 ◽  
Author(s):  
Philip G. Kasprzyk ◽  
Eric Whalen-Pederson ◽  
Paul M. Anderson ◽  
Joseph J. Villafranca
Keyword(s):  
Spatial Relationships ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Allosteric Sites
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