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.

doi:10.1093/nar/18.19.5685

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Article

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.

Nucleic acids research - 11 Oct 1990

Fischer K D, Nowock J

Abstract excerpt

Defects in the developmental changes of human hemoglobin production characterized by the continued expression of fetal globin during adult life are classified as hereditary persistence of fetal hemoglobin (HPFH). Among the various molecular lesions associated with this phenotype, the non-deletion forms with point mutations in the promoter region are thought to provide mechanistic clues for gamma-globin gene...

Topics

Base Composition
Base Sequence
Binding Sites
Binding, Competitive
DNA-Binding Proteins
Fetal Hemoglobin
Genes
Globins
Hemoglobinopathies
Humans
Leukemia, Erythroblastic, Acute

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methylation

Molecular Sequence Data

Mutation

Sp1 Transcription Factor

Transcription, Genetic

Tumor Cells, Cultured

Source

Open in PubMed Open full text

Identifiers

PMID: 1699206
DOI: 10.1093/nar/18.19.5685
PMCID: PMC332301

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1699206-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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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.PMID 1699206Read ↗

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The molecular basis of HPFH in a British family identified by heteroduplex formation.Semantic proximity Read ↗

G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis.Semantic proximity Read ↗

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