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Article

A naturally occurring gamma globin gene mutation enhances SP1 binding activity.

Molecular and cellular biology - 1 Jan 1990

Sykes K, Kaufman R

Abstract excerpt

Transcription of the human fetal globin genes in erythroid cells is tightly regulated during different stages of development and differentiation. Two naturally occurring mutations 202 base pairs upstream of the duplicated gamma globin genes are associated with incorrectly regulated gamma globin gene gene expression; elevated levels of fetal globin are synthesized during adult life. A C-to-G base substitution...

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Identifiers

PMID: 1688466
DOI: 10.1128/mcb.10.1.95-102.1990
PMCID: PMC360716

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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

A naturally occurring gamma globin gene mutation enhances SP1 binding activity.PMID 1688466Read ↗

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 ↗

Retroviral transfer of a human fetal globin gene carrying the -202 G gamma beta (+)-HPFH mutation into the human erythroleukemia line, KMOE.Semantic proximity Read ↗

A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F.Semantic proximity Read ↗

The upstream region of the human gamma-globin gene promoter. Identification and functional analysis of nuclear protein binding sites.Semantic proximity Read ↗

Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters.Semantic proximity Read ↗

Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expressionSemantic proximity Read ↗

Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.Semantic proximity Read ↗

A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 siteSemantic proximity Read ↗

The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot.Semantic proximity Read ↗

Function of normal and mutated gamma-globin gene promoters in electroporated K562 erythroleukemia cells.Semantic proximity Read ↗

Functional profile of the human fetal gamma-globin gene upstream promoter region.Semantic proximity Read ↗

Human gamma-globin gene promoter element regulates human beta-globin gene developmental specificity.Semantic proximity Read ↗

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