Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human β-globin gene cluster

Andrade, Tiago Gomes de; Peterson, Kenneth R.; Cunha, Anderson Ferreira da; Moreira, Luciana Sarmento; Fattori, André; Saad, Sara T.O.; Costa, Fernando Ferreira

doi:10.1016/j.bcmd.2006.07.003

Cited by 24 publications

(39 citation statements)

References 45 publications

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“…In another interesting study developed by Andrade et al, the pattern of gene expression was evaluated in reticulocytes of an individual with the deletional form of PHHF. In this study the authors also identified the up-regulation of chromatin remodeling proteins (ARID1B and TSPYL1 ) as also involved in the reactivation of  globin (de Andrade et al 2006).…”

Section: Molecular Biology and The Identification Of Targets To Treatmentioning

confidence: 98%

Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia

Cunha¹,

Malavazi²,

Romanello³

et al. 2012

Point Mutation

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Section: Molecular Biology and The Identification Of Targets To Treatmentioning

confidence: 98%

Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia

Cunha¹,

Malavazi²,

Romanello³

et al. 2012

Point Mutation

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“…These conditions are characterized by large deletions to variable extents of the human b-like globin cluster, with decreased or absent b-globin chains and a compensatory variable increase of c-globin chains (Weatheral and Clegg 2001;Forget 1998). Some of the detectable transcripts may participate in globin gene regulation and RBC function and have had their altered mRNA expression confirmed by real-time PCR experiments, suggesting a novel, integrated model to explain the increased expression of c-globin in those conditions (De Andrade et al 2006). Herein, we investigate the expression of four new red cell-related genes in erythroid differentiation.…”

Section: Introductionmentioning

confidence: 94%

“…By the suppression subtractive hybridization method (Diatchenko et al 1996), we have previously identified genes differentially expressed in reticulocytes, morphologically identifiable cells, immediately prior to RBCs during erythroid differentiation, from subjects heterozygous for db-thalassemia and deletional hereditary persistence of fetal hemoglobin (HPFH) (De Andrade et al 2006). These conditions are characterized by large deletions to variable extents of the human b-like globin cluster, with decreased or absent b-globin chains and a compensatory variable increase of c-globin chains (Weatheral and Clegg 2001;Forget 1998).…”

Section: Introductionmentioning

confidence: 99%

Expression of New Red Cell–Related Genes in Erythroid Differentiation

et al. 2009

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Using a suppression subtractive hybridization method, we have previously identified genes differentially expressed in erythroid cells heterozygous for large deletions in beta-like globin cluster. Herein, we investigated the expression of four newly detected red cell-related genes in erythroid differentiation. ARID1B and TSPYL1, genes with chromatin remodeling properties, presented similar patterns of expression with an upregulation after erythropoietin (EPO) addition, similar to previous data found in reticulocytes. ZHX2, a transcriptional repressor, was downregulated, and a redoxin-related gene, SH3BGRL2, had higher levels of expression on differentiation. These are the first investigations of these newly described genes in erythroid differentiation and demonstrate that the expression of these genes is affected by EPO stimulation. These genes may participate in globin regulation and may be important in the normal physiology of erythrocytes.

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“…Unlike other QTL, no candidate gene has been proposed in the region of chromosome 8q until recently. The gene encoding the zinc fingers and homeobox 2 (ZHX2) transcription factor located on 8q24 has emerged as a potential candidate gene for γ-globin regulation 7 . Deletion in β-globin cluster leads to unusually high levels of Hb F transcripts in reticulocytes, termed hereditary persistent of foetal haemoglobin.…”

Section: Introductionmentioning

confidence: 99%

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Panya¹,

Sawasdee²,

Srisawat

et al. 2010

ScienceAsia

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During the last few decades, foetal haemoglobin reactivation has been considered as a promising intervention to treat β-thalassaemia and sickle-cell anaemia. Variable foetal haemoglobin (Hb F, α2γ2) production among individuals is under control of distinct chromosome regions, namely, the quantitative trait loci (QTL). One of the QTL affecting Hb F levels on chromosome 8q has never been explored. The zinc fingers and homeodomains 2 (ZHX2) transcription factor located at 8q position is remarkably down-regulated in hereditary persistence of foetal haemoglobin, indicating an inverse correlation between the γ-globin and ZHX2 expression. Here we studied the effect of ZHX2 over the γ-globin expression in K562 erythroleukaemic cell line by transient transfection with a ZHX2 expression plasmid. At 24 h after transfection, the relative expression of endogenous γ-globin mRNA had been reduced to 0.401 ± 0.08 as assessed by real-time PCR. Our finding suggests that the repressive effect on γ-globin probably results from the presence of ZHX2 and supports its possible involvement in the regulation of γ-globin expression.

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Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human β-globin gene cluster

Cited by 24 publications

References 45 publications

Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia

Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia

Expression of New Red Cell–Related Genes in Erythroid Differentiation

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