DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin.

Hemoglobin
S OttolenghiB Giglioni

Abstract

Strong genetic evidence supports the idea that point mutations in the promoter of gamma-globin genes overexpressed in adult age [hereditary persistence of fetal hemoglobin (HPFH)] are responsible for the observed phenotype. DNA binding sites for ubiquitous and/or erythroid specific nuclear proteins correlate in location with the positions of point mutations responsible for HPFH. The analysis of the effects of one of these mutations (-175 T greater than C) on in vitro binding of nuclear proteins and on the activity of the mutated promoter in transfection assays indicates that altered binding of the erythroid-specific protein NFE-1 may be responsible for increased activity of the mutated promoter. Other HPFH mutations close to the distal CCAAT box (-117 G greater than A and 13 nucleotide deletions, -114 to -102) have complex effects on in vitro binding of nuclear proteins; their only common effect is the loss of binding of the erythroid-specific factor NFE3. If mechanisms generating the HPFH phenotype are homogeneous, NFE3 might be a negatively acting factor; alternatively, heterogeneous mechanisms might operate and HPFH might additionally be related to loss of binding to the distal CCAAT box region of either NFE1 (-117 HPFH) or ...Continue Reading

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Citations

Jul 4, 2002·Molecular Aspects of Medicine·Thomas Brittain
Dec 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·J A SharpeW G Wood
Jun 1, 1994·British Journal of Haematology·G PrzybylskiC A Schmidt
Mar 29, 2002·Pediatric Research·Antonio Cao, Paolo Moi
Dec 1, 1992·Annals of Medicine·D N Cooper
Jan 1, 1990·Annals of the New York Academy of Sciences·D G Nathan
Jan 1, 1990·Annals of the New York Academy of Sciences·S OttolenghiB Giglioni
Apr 2, 2008·IUBMB Life·Laura Manca, Bruno Masala
Dec 18, 2007·European Journal of Haematology·Imane AgoutiCatherine Badens
Mar 1, 1993·Baillière's Clinical Haematology·W G Wood
Apr 4, 2001·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·R SchreiberF F Costa
Sep 26, 2000·Molecular and Cellular Biology·W ZhouS M Jane
Mar 29, 2003·Transfusion·Kim D VandegriffRobert M Winslow

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