An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity

Human Molecular Genetics

Volumn 6, Issue 13, 1997, Pages 2271-2278

  Jiang, C K ^a   Hong, R ^b   Horowitz, S D ^c   Kong, X R ^a   Hirschhorn, R ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME; CRYSTAL STRUCTURE; DELETION MUTANT; ENZYME ACTIVITY; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; NORMAL HUMAN; PRIORITY JOURNAL; PROMOTER REGION; X RAY CRYSTALLOGRAPHY;

EID: 0030777855     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.13.2271     Document Type: Article

References (35)

1. Hershfield, M.S. and Mitchell, B.S. (1995) Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In ScriverC.M., Beaudet A.L., Sly W. and Valle D. (eds) The Metabolic Basis of Inherited Disease. 7th Edition McGraw Hill, NY, Ch. 52, pp 1725-1768.
2. Hirschhorn, R. (1993) Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr. Res., 33, S35-S41.
3. Hirschhorn, R. (1995) Adenosine deaminase deficiency: molecular basis and recent developments. Clin. Immunol. Immunopathol., 76, S219-S227.
4. Hirschhorn, R. (1997) Immunodeficiency disease due to deficiency of adenosine deaminase. In Puck, J., Fisher, A. and Ochs, H. (eds) Primary Immunodeficiency Disease: A Molecular and Genetic Approach. Oxford University Press, Oxford, UK.
5. Marken, M.L. (1994) Molecular basis of adenosine deaminase deficiency. Immunodeficiency, 5, 141-157.
6. Marken, M.L., Hutton, J.J., Wiginton, D.A., States, J.C. and Kaufman, R.E. (1988) Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two alu elements. J. Clin. Invest., 81, 1323-1327.
7. Berkvens, T.M., van Ormondt, H., Gerritsen, E.J.A., Meera Khan, P. and van der Eb, A.J. (1990) Identical 3250-bp deletion between two Alul repeats in the ADA genes of unrelated ADA-SCID patients. Genomics, 7, 486-490.
8. Shovlin, C.L., Simmonds, H.A., Fairbanks, L.D., Deacock, S.J., Hughes, J.M.B., Lechler, R.I., Webster, A.D.B., Sun, X-M., Webb, J.C. and Soutar, A.K. (1994) Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J. Immunol., 153, 2331-2339.
9. Santisteban, I., Arredondo-Vega, F.X., Kelly, S., Mary, A., Fischer, A., Hummell, D.S., Lawton, A., Sorensen, R.U., Stiehm, E.R., Uribe, L., Weinberg, K. and Hershfield, M.S. (1993) Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease contribution of genotype to phenotype. J. Clin. Invest., 92, 2291-2302.
10. Sharff, A.J., Wilson, D.K., Chang, Z. and Quiocho, F. (1992) Refined 2.5 Å structure of murine adenosine deaminase at pH 6.0. J. Mol. Biol., 226, 917-921.
11. Chang, Z., Nygaard, P., Chinault, C. and Kellems, R.E. (1991) Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function. Biochemistry, 30, 2273-2280.
12. Wilson, D.K., Rudolph, F.B. and Quiocho, F.A. (1991) Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations. Science, 252, 1278-1284.
13. Wilson, D.K. and Quiocho, F.A. (1993) A pre-transition-state mimic of an enzyme: X-ray structure of adenosine deaminase with bound 1-deazaadenosine and zinc-activated water. Biochemistry, 32, 1689-1694.
14. Hirschhorn, R., Tzall, S. and Ellenbogen, A. (1990) Hot spot mutations in adenosine deaminase deficiency. Proc. Natl. Acad. Sci. USA, 87, 6171-6175.
15. Coleman, M.B., Lu, Z.H., Smith, C.M., Adams, J.G., Harrell, A., Plonczynski, M. and Steinberg, M.H. (1995) Two missense mutations in the β-globin gene can cause severe β thalassemia. J. Clin. Invest., 95, 503-509.
16. Dork, T., Wulbrand, U., Richter, T., Neumann, T., Wolfes, H., Wulf, B., Maass, G. and Tummler, B. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum. Genet., 87, 441-446.
17. Balicki, D. and Beutler, E. (1995) Gaucher disease. Medicine, 74, 305-323.
18. Valerio, D., Dekker, B.M.M., Duyvesteyn, M.G.C., van der Voorn, L., Berkvens, T.M., van Ormondt, H. and van der Eb, A.J. (1986) One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. EMBO J., 5, 113-119.
19. Hirschhorn, R., Yang, D.R. and Israni, A. (1994) An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. Ann. Hum. Genet., 58, 1-9.
20. Lucarini, N., Nicotra, M., Gloria-Bottini, F., Borgiani, P., Amante, A., Muttinelli, C., Signoretti, F., La Torre, M. and Bottinni, E. (1995) Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life. Hum. Genet., 96, 527-531.
21. Engracia, V., Mestriner, M.A., Cabello, P.H. and Krieger, H. (1991) Association between the acid phosphatase 1 and adenosine deaminase systems in a Brazilian sample. Hum. Hered., 41, 147-150.
22. Bottini, E., Gerlini, G., Lucarini, N., Amante, A. and Gloria-Bottini, F. (1991) Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women. Hum. Genet., 87, 199-200.
23. Gloria-Bottini, F., Lucarelli, P., Amante, A., Lucarini, N., Finocchi, G. and Bottini, E. (1989) Interaction at clinical level between erythrocyte acid phosphatase and adenosine deaminase genetic polymorphisms. Hum. Genet., 82, 213-215.
24. Borgiani, P., Gloria-Bottini, F., Lucarini, N., La Torre, M., DeLuca, M., Gerlini, G. and Bottini, E. (1991) Diabetic pregnancy: Is there intrauterine selection of ADA polymorphism? Am. J. Hum. Genet., 49, 464-466.
25. Hirschhorn, R.,Tzall, S., Ellenbogen, A. and Orkin, S.H. (1989) Identification of point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest., 83, 497-501.
26. Hirschhorn, R., Roegner, V., Rubinstein, A. and Papageorgiou, P. (1980) Plasma deoxyadenosine, adenosine and erythrocyte deoxy ATP are elevated at birth in an adenosine deaminase-deficient child. J. Clin. Invest., 65, 768-771.
27. Hirschhorn, R., Roegner, V., Jenkins, T., Seaman, C., Piomelli, S. and Borkowsky, W. (1979) Erythrocyte adenosine deaminase deficiency without immunodeficiency: Evidence for an unstable mutant enzyme. J. Clin. Invest., 64, 1130-1139.
28. - patients with Severe Combined Immunodeficiency. Am. J. Med. Genet., 42, 201-207.
29. Hirschhorn, R., Yang, D.R., Israni, A., Huie, M.L. and Ownby, D.R. (1994) Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genet., 55, 59-68.
30. Wiginton, D.A., Kaplan, D.J., States, J.C., Akeson, A.L., Perme, C.M., Bilyk, I.J., Vaughn, A.J., Lattier, D.L. and Hutton, J.J. (1986) Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry, 25, 8234-8244.
31. Ho, S.N., Hunt, H.D., Horton, R.M., Pullen, J.K. and Pease, L.R. (1989) Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene, 77, 51-59.
32. -) individuals that result in differing biochemical and metabolic phenotypes. Hum. Genet., 100, 22-29.
33. Moen, R.C., Horowitz, S.D., Sondel, P.M., Borcherding, W.R., Trigg, M.E., Billing, R. and Hong, R. (1987) Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood, 70, 664-669.
34. Tzall, S., Ellenbogen, A., Eng, F. and Hirschhorn, R. (1989) Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Am. J. Hum. Genet., 44, 864-875.
35. Hirschhorn, R., Yang, D.R., Puck, J.M., Huie, M., Jiang, C-K. and Kurlandsky, L.E. (1996) Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nature Genet., 13, 290-295.