Click
here to close Hello! We notice that
you are using Internet Explorer, which is not supported by Echinobase
and may cause the site to display incorrectly. We suggest using a
current version of Chrome,
FireFox,
or Safari.
EMBO J
1988 Oct 01;710:3099-107. doi: 10.1002/j.1460-2075.1988.tb03176.x.
Show Gene links
Show Anatomy links
The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene.
Superti-Furga G
,
Barberis A
,
Schaffner G
,
Busslinger M
.
???displayArticle.abstract???
The Greek form of hereditary persistence of fetal hemoglobin (HPFH) is associated with a point mutation immediately upstream of the distal of the two CCAAT elements of the A gamma-globin gene. Three proteins present in nuclear extracts of erythroleukemia cells bind to this CCAAT region and contact the nucleotide mutated in Greek HPFH. The ubiquitous CCAAT-binding factor CP1 interacts preferentially with the proximal CCAAT sequence. An erythroid cell-specific factor, referred to as NF-E, binds with a higher affinity to the distal CCAAT region and interacts only with sequences flanking the CCAAT motif. The third protein is the vertebrate homologue of the sea urchin CCAAT displacement protein and recognizes sequences in both CCAAT elements and their flanking sequences. While the point mutation in Greek HPFH slightly strengthens the binding of CP1 and the CCAAT displacement protein, the same base change strongly reduces the binding of NF-E to the distal CCAAT region, suggesting a possible role of NF-E in the repression of gamma-globin genes in adult erythroid cells.
Anagnou,
Promoter sequences required for function of the human gamma globin gene in erythroid cells.
1986, Pubmed
Anagnou,
Promoter sequences required for function of the human gamma globin gene in erythroid cells.
1986,
Pubmed
Barberis,
Mutually exclusive interaction of the CCAAT-binding factor and of a displacement protein with overlapping sequences of a histone gene promoter.
1987,
Pubmed
,
Echinobase
Benoist,
The ovalbumin gene-sequence of putative control regions.
1980,
Pubmed
Bradford,
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.
1976,
Pubmed
Charnay,
Linker scanning mutagenesis of the 5'-flanking region of the mouse beta-major-globin gene: sequence requirements for transcription in erythroid and nonerythroid cells.
1985,
Pubmed
Charnay,
Regulated expression of cloned human fetal A gamma-globin genes introduced into murine erythroleukemia cells.
1986,
Pubmed
Chodosh,
A yeast and a human CCAAT-binding protein have heterologous subunits that are functionally interchangeable.
1988,
Pubmed
Chodosh,
Human CCAAT-binding proteins have heterologous subunits.
1988,
Pubmed
Cohen,
Partial purification of a nuclear protein that binds to the CCAAT box of the mouse alpha 1-globin gene.
1986,
Pubmed
Collins,
The molecular genetics of human hemoglobin.
1984,
Pubmed
Collins,
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.
1985,
Pubmed
Conscience,
Coordinate expression of erythroid marker enzymes during dimethylsulfoxide-induced differentiation of Friend erythroleukemia cells.
1980,
Pubmed
Dierks,
Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells.
1983,
Pubmed
Dignam,
Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei.
1983,
Pubmed
Dorn,
A multiplicity of CCAAT box-binding proteins.
1987,
Pubmed
Efstratiadis,
The structure and evolution of the human beta-globin gene family.
1980,
Pubmed
Emerson,
Analysis of the tissue-specific enhancer at the 3' end of the chicken adult beta-globin gene.
1987,
Pubmed
Fried,
Equilibria and kinetics of lac repressor-operator interactions by polyacrylamide gel electrophoresis.
1981,
Pubmed
Galson,
Detection of two tissue-specific DNA-binding proteins with affinity for sites in the mouse beta-globin intervening sequence 2.
1988,
Pubmed
Garner,
A gel electrophoresis method for quantifying the binding of proteins to specific DNA regions: application to components of the Escherichia coli lactose operon regulatory system.
1981,
Pubmed
Gelinas,
G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.
1985,
Pubmed
Graves,
Homologous recognition of a promoter domain common to the MSV LTR and the HSV tk gene.
1986,
Pubmed
Grosveld,
Position-independent, high-level expression of the human beta-globin gene in transgenic mice.
1987,
Pubmed
Johnson,
Identification of a rat liver nuclear protein that binds to the enhancer core element of three animal viruses.
1987,
Pubmed
Jones,
A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication.
1987,
Pubmed
Jones,
Two distinct transcription factors bind to the HSV thymidine kinase promoter in vitro.
1985,
Pubmed
Karlsson,
Developmental regulation of human globin genes.
1985,
Pubmed
Kemper,
Protein-binding sites within the 5' DNase I-hypersensitive region of the chicken alpha D-globin gene.
1987,
Pubmed
Kioussis,
Differential expression of human globin genes introduced in K562 cells.
1985,
Pubmed
Lichtsteiner,
The interplay of DNA-binding proteins on the promoter of the mouse albumin gene.
1987,
Pubmed
Maniatis,
Regulation of inducible and tissue-specific gene expression.
1987,
Pubmed
Maxam,
Sequencing end-labeled DNA with base-specific chemical cleavages.
1980,
Pubmed
Morgan,
Two transcriptional activators, CCAAT-box-binding transcription factor and heat shock transcription factor, interact with a human hsp70 gene promoter.
1987,
Pubmed
Myers,
Fine structure genetic analysis of a beta-globin promoter.
1986,
Pubmed
Olesen,
Yeast HAP2 and HAP3 activators both bind to the CYC1 upstream activation site, UAS2, in an interdependent manner.
1987,
Pubmed
Ottolenghi,
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.
1988,
Pubmed
Raymondjean,
Several distinct "CCAAT" box binding proteins coexist in eukaryotic cells.
1988,
Pubmed
Rixon,
A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell.
1988,
Pubmed
Shore,
Purification and cloning of a DNA binding protein from yeast that binds to both silencer and activator elements.
1987,
Pubmed
Siebenlist,
E. coli RNA polymerase interacts homologously with two different promoters.
1980,
Pubmed
Slightom,
Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.
1980,
Pubmed
Stoeckert,
Expression of the affected A gamma globin gene associated with Greek nondeletion hereditary persistence of fetal hemoglobin.
1987,
Pubmed
Waber,
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks.
1986,
Pubmed
Wright,
DNA sequences required for regulated expression of beta-globin genes in murine erythroleukemia cells.
1984,
Pubmed
