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Article

Hereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.

American journal of human genetics - 1 Oct 1993

Chen E H, Tartaglia A P, Mitchell B S

Abstract excerpt

Overexpression of adenosine deaminase (ADA) in red blood cells is inherited as an autosomal dominant trait and causes hemolytic anemia. The increased ADA activity in erythrocytes is due to an increase in steady-state levels of ADA mRNA of normal sequence. Increased ADA mRNA may be due to a cis-acting mutation which results in increased transcription or a loss of down-regulation during erythroid differentiation....

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Identifiers

PMID: 8213817
PMCID: PMC1682400

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.PMID 8213817Read ↗

Characterization of the 5′-flanking region of the human RNA-specific adenosine deaminase ADAR1 gene and identification of an interferon-inducible ADAR1 promoterSemantic proximity Read ↗

Recent progress in the molecular genetic analysis of erythroenzymopathy.Semantic proximity Read ↗

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.Semantic proximity Read ↗

[Genetic analysis of two patients with adenosine deaminase (ADA)-deficiency: detection of three novel mutations and characterization of two paradoxical carriers].Semantic proximity Read ↗

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).Semantic proximity Read ↗

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.Semantic proximity Read ↗

Reading-frame restoration by transcriptional slippage at long stretches of adenine residues in mammalian cells.Semantic proximity Read ↗

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.Semantic proximity Read ↗

Hot spot mutations in adenosine deaminase deficiency.Semantic proximity Read ↗

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.Semantic proximity Read ↗

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.Semantic proximity Read ↗

An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.Semantic proximity Read ↗

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