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Article

Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis.

American journal of hematology - 1 Jan 1991

Berg P E, Mittelman M, Elion J, Labie D, Schechter A N

Abstract excerpt

Although some cases of the syndrome of hereditary persistence of fetal hemoglobin (HPFH) have been correlated with mutations causing a change in the binding of trans-acting factors to DNA sequences flanking the gamma-globin gene, this mechanism has not been described in beta-thalassemias upstream of the canonical promoter of the beta-globin gene. In this report we describe such a change in binding of a protein...

Topics

Base Sequence
DNA
Genes
Globins
Humans
Molecular Sequence Data
Mutation
Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1984681
DOI: 10.1002/ajh.2830360109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1984681-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis.PMID 1984681Read ↗

A naturally occurring gamma globin gene mutation enhances SP1 binding activity.Semantic proximity Read ↗

The T----C substitution at -198 of the A gamma-globin gene associated with the British form of HPFH generates overlapping recognition sites for two DNA-binding proteins.Semantic proximity Read ↗

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