Citrulline metabolism in normal and citrullinemic human lymphocyte lines

Elaine B. Spector, Oksana Lockridge, Arthur D. Bloom

Research output: Contribution to journalArticle

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Abstract

Citrullinemia is one of the five aminoacidurias associated with the Krebs-Henseleit urea cycle. A long-term lymphocyte line (UM-21) derived from a patient with this disease and nine of ten clones of this line were found to have no activity for the enzyme argininosuccinate synthetase (AS), as demonstrated by their inability to grow in medium in which citrulline had been substituted for arginine, by their inability to incorporate arginine-C14 derived from citrulline-C14 into cellular protein, and by direct enzyme assay. One clone had normal or nearly normal argininosuccinate synthetase activity, as demonstrated by the same criteria. Nutritional "variants" able to grow logarithmically in medium containing citrulline were isolated from UM-21 and three clones. The apparent Kms of AS for citrulline in UM-21, the ten clones, the variant lines, and a normal line were measured and fell into three groups: AS in UM-21 and nine clones had no measurable apparent Km for citrulline; AS in the variant cells had apparent Kms for citrulline of approximately 20 m m; and AS in the normal cell line and one clone had apparent Kms for citrulline of 0.2 m m. The data suggest that the defect in the citrullinemic cell lines is due to a mutation in the structural gene coding for argininosuccinate synthetase.

Original languageEnglish (US)
Pages (from-to)471-485
Number of pages15
JournalBiochemical Genetics
Volume13
Issue number7-8
DOIs
StatePublished - Aug 1975

Fingerprint

Argininosuccinate Synthase
citrulline
Citrulline
Lymphocytes
ligases
Metabolism
clone
lymphocytes
metabolism
Clone Cells
clones
arginine
Arginine
enzyme
Citrullinemia
Cells
cell lines
Cell Line
structural genes
Enzyme Assays

Keywords

  • citrullinemia
  • human lymphocyte lines
  • urea cycle

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

Citrulline metabolism in normal and citrullinemic human lymphocyte lines. / Spector, Elaine B.; Lockridge, Oksana; Bloom, Arthur D.

In: Biochemical Genetics, Vol. 13, No. 7-8, 08.1975, p. 471-485.

Research output: Contribution to journalArticle

Spector, Elaine B. ; Lockridge, Oksana ; Bloom, Arthur D. / Citrulline metabolism in normal and citrullinemic human lymphocyte lines. In: Biochemical Genetics. 1975 ; Vol. 13, No. 7-8. pp. 471-485.
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