Literature DB >> 2430647

The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.

V E Tate, W G Wood, D J Weatherall.   

Abstract

The G gamma and A gamma genes of an individual homozygous for the British form of A gamma nondeletion hereditary persistence of fetal hemoglobin have been cloned and partially sequenced. The G gamma gene was normal, but the A gamma gene was found to have a single base change (T----C) at -198 bp relative to the cap site. Supercoiled plasmids containing normal gamma-genes or the mutant A gamma-gene displayed an S1-hypersensitive site immediately 5' to the base change.

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Year:  1986        PMID： 2430647

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


  25 in total

1.  Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease.

Authors:  S R Month; R W Wood; P T Trifillis; P J Orchowski; B Sharon; S K Ballas; S Surrey; E Schwartz
Journal:  J Clin Invest       Date:  1990-02       Impact factor: 14.808

2.  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

3.  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

4.  Roles of fetal G gamma-globin promoter elements and the adult beta-globin 3' enhancer in the stage-specific expression of globin genes.

Authors:  C Perez-Stable; F Costantini
Journal:  Mol Cell Biol       Date:  1990-03       Impact factor: 4.272

5.  Effects of human gamma-globin in murine beta-thalassaemia.

Authors:  Tamon Nishino; Hua Cao; George Stamatoyannopoulos; David W Emery
Journal:  Br J Haematol       Date:  2006-07       Impact factor: 6.998

6.  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.

Authors:  S Ottolenghi; C Camaschella; P Comi; B Giglioni; M Longinotti; L Oggiano; F Dore; G Sciarratta; G Ivaldi; G Saglio
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

7.  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

8.  Analyses of linked beta-globin genes suggest that nondeletion forms of hereditary persistence of fetal hemoglobin are bona fide switching mutants.

Authors:  J E Metherall; F P Gillespie; B G Forget
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

9.  Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex.

Authors:  J A Donald; A Lammi; R J Trent
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

10.  Human G gamma and A gamma globin gene constructs containing the 3' A gamma enhancer show persistent fetal expression in transgenic mice.

Authors:  M P Harvey; J Crosbie; R J Trent
Journal:  Transgenic Res       Date:  1993-03       Impact factor: 2.788
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