Literature DB >> 6688808

Molecular cloning of human adenosine deaminase gene sequences.

S H Orkin, P E Daddona, D S Shewach, A F Markham, G A Bruns, S C Goff, W N Kelley.   

Abstract

Using a mixture of synthetic 17-mer oligonucleotides encoding the 64 possible sequences for a peptide of adenosine deaminase as probe, we have isolated a clone for adenosine deaminase mRNA sequences from a collection of T-cell cDNA recombinants. This cDNA clone, phADA-1, contains an insert of 0.8 kilobase. In addition to the peptide chosen for synthesis of the oligonucleotide probe, the complete DNA sequence predicts 16 other experimentally determined peptides. Mapping of total cellular human DNAs with several restriction enzymes revealed relatively simple patterns of hybridization with phADA-1 as probe, including a polymorphism for PvuII cleavage. In agreement with previous studies, the adenosine deaminase gene was localized by blot hybridization to chromosome 20 in a hybrid cell mapping panel. Using the cDNA as probe, an 18-kilobase EcoRI fragment of human cellular DNA was also cloned in bacteriophage Charon 4A. These adenosine deaminase clones will prove valuable in the full characterization of the cellular gene, molecular analysis of inherited enzyme deficiency associated with immunodeficiency, and regional mapping of human chromosome 20.

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Year:  1983        PMID: 6688808

Source DB:  PubMed          Journal:  J Biol Chem        ISSN: 0021-9258            Impact factor:   5.157


  20 in total

1.  Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

Authors:  M L Markert; J J Hutton; D A Wiginton; J C States; R E Kaufman
Journal:  J Clin Invest       Date:  1988-05       Impact factor: 14.808

2.  Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.

Authors:  S Tzall; A Ellenbogen; F Eng; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

3.  Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

Authors:  R Hirschhorn; S Tzall; A Ellenbogen; S H Orkin
Journal:  J Clin Invest       Date:  1989-02       Impact factor: 14.808

4.  Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

Authors:  F Martiniuk; M Mehler; S Tzall; G Meredith; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

5.  Thermodynamic studies of base pairing involving 2,6-diaminopurine.

Authors:  C Cheong; I Tinoco; A Chollet
Journal:  Nucleic Acids Res       Date:  1988-06-10       Impact factor: 16.971

6.  Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Authors:  R Hirschhorn; V Chakravarti; J Puck; S D Douglas
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

7.  Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

Authors:  G S Adrian; D A Wiginton; J J Hutton
Journal:  Mol Cell Biol       Date:  1984-09       Impact factor: 4.272

8.  Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Authors:  F Martiniuk; M Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; R Hirschhorn
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

9.  Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution.

Authors:  S H Orkin; S C Goff; W N Kelley; P E Daddona
Journal:  Mol Cell Biol       Date:  1985-04       Impact factor: 4.272

10.  Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

Authors:  D T Bonthron; A F Markham; D Ginsburg; S H Orkin
Journal:  J Clin Invest       Date:  1985-08       Impact factor: 14.808

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