Literature DB >> 2449927

Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter.

S Ottolenghi1, S Nicolis, R Taramelli, N Malgaretti, R Mantovani, P Comi, B Giglioni, M Longinotti, F Dore, L Oggiano.   

Abstract

A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G gamma hereditary persistence of fetal hemoglobin (HPFH). The G gamma-globin gene from the HPFH chromosome shows the presence of a T----C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the gamma-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.

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Year:  1988        PMID： 2449927

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  14 in total

1.  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.

Authors:  S Fucharoen; K Shimizu; Y Fukumaki
Journal:  Nucleic Acids Res       Date:  1990-09-11       Impact factor: 16.971

2.  Functional profile of the human fetal gamma-globin gene upstream promoter region.

Authors:  H J Lin; C Y Han; A W Nienhuis
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Protein-DNA interactions upstream from the human A gamma globin gene.

Authors:  D O'Neill; J Kaysen; M Donovan-Peluso; M Castle; A Bank
Journal:  Nucleic Acids Res       Date:  1990-04-25       Impact factor: 16.971

4.  The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors.

Authors:  R Mantovani; N Malgaretti; S Nicolis; A Ronchi; B Giglioni; S Ottolenghi
Journal:  Nucleic Acids Res       Date:  1988-08-25       Impact factor: 16.971

5.  Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin.

Authors:  D L Gumucio; K L Rood; T A Gray; M F Riordan; C I Sartor; F S Collins
Journal:  Mol Cell Biol       Date:  1988-12       Impact factor: 4.272

Review 6.  Customizing the genome as therapy for the β-hemoglobinopathies.

Authors:  Matthew C Canver; Stuart H Orkin
Journal:  Blood       Date:  2016-04-06       Impact factor: 22.113

7.  Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin.

Authors:  J G Gilman; N Mishima; X J Wen; T A Stoming; J Lobel; T H Huisman
Journal:  Nucleic Acids Res       Date:  1988-11-25       Impact factor: 16.971

Review 8.  Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.

Authors:  Vigneshwaran Venkatesan; Saranya Srinivasan; Prathibha Babu; Saravanabhavan Thangavel
Journal:  Mol Cell Biol       Date:  2020-12-21       Impact factor: 4.272

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

Authors:  K Sykes; R Kaufman
Journal:  Mol Cell Biol       Date:  1990-01       Impact factor: 4.272

10.  Increased erythroid-specific expression of a mutated HPFH gamma-globin promoter requires the erythroid factor NFE-1.

Authors:  S Nicolis; A Ronchi; N Malgaretti; R Mantovani; B Giglioni; S Ottolenghi
Journal:  Nucleic Acids Res       Date:  1989-07-25       Impact factor: 16.971
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