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Gene Review

ASL  -  argininosuccinate lyase

Homo sapiens

Synonyms: ASAL, Argininosuccinate lyase, Arginosuccinase
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Disease relevance of ASL


Psychiatry related information on ASL

  • A S413P mutation in ASL segregates with mental retardation in an affected family (Stone, R. L., Aimi, J., Barshop, B. A., Jaeken, J., Van den Berghe, G., Zalkin, H., and Dixon, J. E. (1992) Nature Genet. 1, 59-63) [6].
  • In this study, we have preformed simultaneous near-infrared spectroscopy (NIRS) along with BOLD (blood oxygen level dependent) and ASL (arterial spin labeling)-based fMRI during an event-related motor activity in human subjects in order to compare the temporal dynamics of the hemodynamic responses recorded in each method [7].
  • Outcome measures included cognitive tests (FePsy neuropsychological test battery), mood scales (ASL; mood-rating scale), and a scale for subjective complaints (ABNAS Neurotoxicity scale) [8].

High impact information on ASL


Chemical compound and disease context of ASL

  • In a 15-month-old girl with profound hypotonia, we established the diagnosis of ASL deficiency by demonstrating succinyladenosine and SAICA riboside in urine and decreased residual activity of ASL in skin fibroblasts [13].

Biological context of ASL

  • Regional location of ASL and GUS to the pter to q22 region of chromosome 7 was achieved in hybrids segregating a 7/9 translocation [14].
  • The human ASL phenotype segregated concordantly with the human enzyme beta-glucoronidase (GUS; beta-D-glucoronide glucuronosohydrolase, EC in cell hybrids, but showed discordant segregation with 32 other enzyme markers representing 23 linkage groups [14].
  • Identifying human ASL, by bioautography in human-mouse somatic cell hybrids has made it possible to regionally locate the ASL gene on human chromosome 7 [14].
  • The 3-dimensional structure of wild-type ASL has enabled us to propose that the complementation between two ASL active site mutant subunits, Q286R and D87G, occurs through a regeneration of functional active sites in the heteromutant protein [15].
  • Amino acid sequencing of peptides prepared from purified human liver ASL showed our predicted amino acid sequence to be correct [16].

Anatomical context of ASL

  • We demonstrate here that (a) human normal T and B lymphocytes did not express ASS activity, (b) however, three adult T leukemia (ATL) cell lines tested here exhibited significant elevation of ASS activity, and (c) ASL activity remained relatively constant in normal lymphocytes and various leukemia cell lines [17].
  • Fibroblast strain 944 (approximately 1% of residual ASAL activity), from a late-onset patient who was the product of a consanguineous mating, had only a single base-pair change in the coding region, a C-283----T transition at a CpG dinucleotide in exon 3 [18].
  • Expression in COS cells demonstrated that the R95C mutation produces normal amounts of ASAL mRNA but little protein and less than 1% ASAL activity [18].
  • We observed that amplified cDNA from mutant 944 and normal cells (liver, keratinocytes, lymphoblasts, and fibroblasts) contained, in addition to the expected 5' 513-base-pair band, a prominent 318-base-pair ASAL band formed by the splicing of exon 2 from the transcript [18].
  • AS and sometimes AL have been shown to be coinduced with inducible NOS (iNOS) in various cell types including activated macrophages, microglia, vascular smooth muscle cells, glial cells, neuronal PC12 cells, retinal pigment epithelial cells, and pancreatic beta-cells [19].

Associations of ASL with chemical compounds


Other interactions of ASL


Analytical, diagnostic and therapeutic context of ASL


  1. Pegylated arginine deiminase (ADI-SS PEG20,000 mw) inhibits human melanomas and hepatocellular carcinomas in vitro and in vivo. Ensor, C.M., Holtsberg, F.W., Bomalaski, J.S., Clark, M.A. Cancer Res. (2002) [Pubmed]
  2. Urea cycle and protein content in leucocytes from normal persons and uraemics. Vlaho, M., Sieberth, H.G. Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association. (1981) [Pubmed]
  3. p53 mutations at A:T base pairs in angiosarcomas of vinyl chloride-exposed factory workers. Hollstein, M., Marion, M.J., Lehman, T., Welsh, J., Harris, C.C., Martel-Planche, G., Kusters, I., Montesano, R. Carcinogenesis (1994) [Pubmed]
  4. Influence of vascular filling and perfusion on BOLD contrast during reactive hyperemia in human skeletal muscle. Duteil, S., Wary, C., Raynaud, J.S., Lebon, V., Lesage, D., Leroy-Willig, A., Carlier, P.G. Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. (2006) [Pubmed]
  5. Crystallization and preliminary structural analysis of Bacillus subtilis adenylosuccinate lyase, an enzyme implicated in infantile autism. Redinbo, M.R., Eide, S.M., Stone, R.L., Dixon, J.E., Yeates, T.O. Protein Sci. (1996) [Pubmed]
  6. Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase. Stone, R.L., Zalkin, H., Dixon, J.E. J. Biol. Chem. (1993) [Pubmed]
  7. A temporal comparison of BOLD, ASL, and NIRS hemodynamic responses to motor stimuli in adult humans. Huppert, T.J., Hoge, R.D., Diamond, S.G., Franceschini, M.A., Boas, D.A. Neuroimage (2006) [Pubmed]
  8. Randomized double-blind parallel-group study comparing cognitive effects of a low-dose lamotrigine with valproate and placebo in healthy volunteers. Aldenkamp, A.P., Arends, J., Bootsma, H.P., Diepman, L., Hulsman, J., Lambrechts, D., Leenen, L., Majoie, M., Schellekens, A., de Vocht, J. Epilepsia (2002) [Pubmed]
  9. Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency. Stéphenne, X., Najimi, M., Sibille, C., Nassogne, M.C., Smets, F., Sokal, E.M. Gastroenterology (2006) [Pubmed]
  10. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Lee, B., Yu, H., Jahoor, F., O'Brien, W., Beaudet, A.L., Reeds, P. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  11. Chlorophyll a oxygenase (CAO) is involved in chlorophyll b formation from chlorophyll a. Tanaka, A., Ito, H., Tanaka, R., Tanaka, N.K., Yoshida, K., Okada, K. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  12. Human argininosuccinate lyase: a structural basis for intragenic complementation. Turner, M.A., Simpson, A., McInnes, R.R., Howell, P.L. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  13. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Valik, D., Miner, P.T., Jones, J.D. Pediatric neurology. (1997) [Pubmed]
  14. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. Naylor, S.L., Klebe, R.J., Shows, T.B. Proc. Natl. Acad. Sci. U.S.A. (1978) [Pubmed]
  15. Mechanisms for intragenic complementation at the human argininosuccinate lyase locus. Yu, B., Thompson, G.D., Yip, P., Howell, P.L., Davidson, A.R. Biochemistry (2001) [Pubmed]
  16. Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence. Matuo, S., Tatsuno, M., Kobayashi, K., Saheki, T., Miyata, T., Iwanaga, S., Amaya, Y., Mori, M. FEBS Lett. (1988) [Pubmed]
  17. Elevated argininosuccinate synthetase activity in adult T leukemia cell lines. Sugimura, K., Kimura, T., Arakawa, H., Ohno, T., Wada, Y., Kimura, Y., Saheki, T., Azuma, I. Leuk. Res. (1990) [Pubmed]
  18. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Walker, D.C., McCloskey, D.A., Simard, L.R., McInnes, R.R. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  19. Arginine metabolic enzymes, nitric oxide and infection. Mori, M., Gotoh, T. J. Nutr. (2004) [Pubmed]
  20. Argininosuccinate lyase: purification and characterization from human liver. O'Brien, W.E., Barr, R.H. Biochemistry (1981) [Pubmed]
  21. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Linnebank, M., Tschiedel, E., Häberle, J., Linnebank, A., Willenbring, H., Kleijer, W.J., Koch, H.G. Hum. Genet. (2002) [Pubmed]
  22. Genetic approach to prenatal diagnosis in urea cycle defects. Häberle, J., Koch, H.G. Prenat. Diagn. (2004) [Pubmed]
  23. Effect of alkalinity (pH 10) on ureogenesis in the air-breathing walking catfish, Clarias batrachus. Saha, N., Kharbuli, Z.Y., Bhattacharjee, A., Goswami, C., Häussinger, D. Comp. Biochem. Physiol., Part A Mol. Integr. Physiol. (2002) [Pubmed]
  24. Argininosuccinate lyase: a new autoantigen in liver disease. Pelli, N., Fensom, A.H., Slade, C., Boa, F., Mieli-Vergani, G., Vergani, D. Clin. Exp. Immunol. (1998) [Pubmed]
  25. cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase. Todd, S., McGill, J.R., McCombs, J.L., Moore, C.M., Weider, I., Naylor, S.L. Genomics (1989) [Pubmed]
  26. Cloning and sequence analysis of cDNA for human argininosuccinate lyase. O'Brien, W.E., McInnes, R., Kalumuck, K., Adcock, M. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  27. Effects of SV40 transformation on intercellular gap junctional communication in human fibroblasts. Rosen, A., van der Merwe, P.A., Davidson, J.S. Cancer Res. (1988) [Pubmed]
  28. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P. Hum. Genet. (1981) [Pubmed]
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