PMID:8486760

Citation	Hoshide, R, Matsuura, T, Haraguchi, Y, Endo, F, Yoshinaga, M and Matsuda, I (1993) Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J. Clin. Invest. 91:1884-7
Abstract	Carbamyl phosphate synthetase I (CPS I; EC6,3,4,16) is an autosomal recessive disorder characterized by hyperammonemia. We studied the molecular bases of CPS I deficiency in a newborn Japanese girl with consanguineous parents. Northern and Western blots revealed a marked decrease in CPS I mRNA and enzyme protein but with a size similar to that of the control, respectively. Sequencing of the patient's cDNA revealed a nine-nucleotide deletion at position 832-840. Sequencing analysis of the genomic DNA revealed a G to C transversion at position 840, the last nucleotide of an exon in the splice donor site. This substitution altered the consensus sequence of the splice donor site and the newly cryptical donor site in the exon caused the 9-bp in-frame deletion. This report seems to be the first complete definition of CPS I deficiency, at the molecular level.
Links	PubMed PMC288181 Online version:10.1172/JCI116405
Keywords	Amino Acid Sequence; Base Composition; Base Sequence; Blotting, Northern; Blotting, Western; Carbamoyl-Phosphate Synthase (Ammonia)/deficiency; Carbamoyl-Phosphate Synthase (Ammonia)/genetics; Carbamoyl-Phosphate Synthase (Ammonia)/metabolism; DNA/genetics; DNA/isolation & purification; Exons; Female; Humans; Infant, Newborn; Liver/enzymology; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Pedigree; Polymerase Chain Reaction/methods; RNA Splicing; RNA, Messenger/genetics; RNA, Messenger/metabolism; Sequence Deletion
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