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Article

A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.

Nucleic acids research - 11 Sept 1990

Fucharoen S, Shimizu K, Fukumaki Y

Abstract excerpt

Hereditary persistence of fetal hemoglobin (HPFH) is a condition characterized by the continued expression of the fetal globin gene in adulthood. Both deletional and nondeletional forms have been described. We studied one Japanese family with two different nondeletional forms of HPFH. Analysis of polymorphic restriction sites in the beta-globin gene cluster suggested that one affecting both G gamma and A gamma...

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Identifiers

PMID: 1698280
DOI: 10.1093/nar/18.17.5245
PMCID: PMC332148

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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.

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A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.PMID 1698280Read ↗

A role for the distal CCAAT box of the gamma-globin gene in Hb switching.Semantic proximity Read ↗

Factor binding to the human gamma-globin gene distal CCAAT site: candidates for repression of the normal gene or activation of HPFH mutants.Semantic proximity Read ↗

Molecular analysis of the human fetal-to-adult globin switching.Semantic proximity Read ↗

T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice.Semantic proximity Read ↗

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.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 ↗

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 ↗

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.Semantic proximity Read ↗

Molecular Basis of Hereditary Persistence of Fetal HemoglobinSemantic proximity Read ↗

Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin.Semantic proximity Read ↗

Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.Semantic proximity Read ↗

Differential Binding of the NFE3 and CP1/NFY Transcription Factors to the Human γ- and ∊-Globin CCAAT BoxesSemantic proximity Read ↗

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