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Human adenosine deaminase. cDNA and complete primary amino acid sequence.
A previously cloned partial adenosine deaminase cDNA insert (0.8 kilobase) was used to clone additional nucleotide sequences from human HPB ALL cDNA libraries. cDNA encompassing the entire coding, and 3'-untranslated regions as well as nearly all of the 5'-untranslated region was obtained. The complete amino acid sequence of the enzyme deduced from the cDNA sequence and protein sequencing consists of 362 amino acids, excluding the initiator Met, and accounts for Mr = 40,638. Secondary structure predictions assign adenosine deaminase to the alpha/beta class of proteins. Northern blot analysis with a cDNA probe showed adenosine deaminase mRNA to be present in normal to above normal amounts in B-lymphoblasts derived from adenosine deaminase-deficient patients with severe combined immunodeficiency disease. Knowledge of the cDNA and primary amino acid sequence of adenosine deaminase will be pivotal in further defining the genetic abnormality and its functional consequences in adenosine deaminase expression defects.
PMID: 6090454 [PubMed - indexed for MEDLINE]
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Cited by 19 PubMed Central articles
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A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.
Rothschild CB, Akots G, Hayworth R, Pettenati MJ, Rao PN, Wood P, Stolz FM, Hansmann I, Serino K, Keith TP.
Am J Hum Genet. 1993 Jan; 52(1):110-23.
[Am J Hum Genet. 1993]
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Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR.
Am J Hum Genet. 1994 Jul; 55(1):59-68.
[Am J Hum Genet. 1994]
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Effects of retroviral vector design on expression of human adenosine deaminase in murine bone marrow transplant recipients engrafted with genetically modified cells.
Rivière I, Brose K, Mulligan RC.
Proc Natl Acad Sci U S A. 1995 Jul 18; 92(15):6733-7.
[Proc Natl Acad Sci U S A. 1995]
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