PIP4KIIA and β‐globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease

Wenning, M.R.S.C.; Mello, Maricilda Palandi de; Andrade, Tiago Gomes de; Lanaro, Carolina; Albuquerque, Dulcinéia Martins; Saad, Sara T.O.; Costa, Fernando Ferreira; Sonati, M.F.

doi:10.1111/j.1600-0609.2009.01325.x

Cited by 11 publications

(11 citation statements)

References 14 publications

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“…(1995) respectively. Another intriguing link between erythrocytes and PtdIns5 P 4-kinase IIα has emerged recently in a pair of α-thalassemic twins with very different β-globin gene expression levels, in which the only other gene showing a similar disparity in expression in their reticulocytes was PtdIns5 P 4-kinase IIα (Wenning et al., 2009). …”

Section: Type II Ptdins5p 4-kinasesmentioning

confidence: 99%

Localization, regulation and function of Type II phosphatidylinositol 5-phosphate 4-kinases

Clarke

Wang

Irvine

2010

Advances in Enzyme Regulation

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Section: Type II Ptdins5p 4-kinasesmentioning

confidence: 99%

Localization, regulation and function of Type II phosphatidylinositol 5-phosphate 4-kinases

Clarke

Wang

Irvine

2010

Advances in Enzyme Regulation

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“…Although some attempts have been made to elucidate the regulation of gene expression by these nuclear phosphoinositides (Mellman et al, 2008;Mellman and Anderson, 2009;Keune et al, 2011), the mechanism by which they directly regulate these functions remains unknown. Recently, Wenning et al (2009) have suggested that PIPKIIα may be involved in the regulation of b-globin gene expression in α-thalassemia patients; however, none of the studies in the literature to date have investigated the normal profiles of PIPKs in erythroid cells from healthy individuals. This study is the first to establish the expression profiles of PIPK genes during in vitro human erythroid differentiation in cells from a group of healthy individuals.…”

Section: Discussionmentioning

confidence: 99%

“…Expression of both PIPKIIa and β-globin genes was higher in the patient with the higher Hb H level, suggesting a relationship between PIPKIIa and the production of globins, particularly β-globin (Wenning et al, 2009).…”

Section: Introductionmentioning

confidence: 92%

“…Few studies of PIPKs and erythroid cells appear in the literature (Bazenet et al, 1990;Boronenkov and Anderson, 1995;Wenning et al, 2009), and to our knowledge, none has evaluated the expression profiles of these molecules in normal erythroid cells. The main aim of this study was therefore to determine gene expression profiles for PIPK family members during erythroid differentiation in cultured human CD34 + cells from healthy subjects and compare them with those of human globin genes (α, β, and γ).…”

Section: Introductionmentioning

confidence: 99%

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Expression profiles of phosphatidylinositol phosphate kinase genes during normal human in vitro erythropoiesis

Zaccariotto¹,

Lanaro²,

Albuquerque³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Phosphatidylinositol phosphate kinases (PIPKs) are enzymes that participate in diverse intracellular signaling pathways. They are classified into 3 functionally distinct subfamilies -PIPKI (a, b, g), PIPKII (a, b, g), and PIPKIII -located in various subcellular compartments. Recently, the PIPKIIa and b-globin genes were found to be overexpressed in reticulocytes from 2 siblings with hemoglobin H disease, suggesting a possible relationship between PIPKIIa and the production of globins. The main aim of this study was to determine the expression profiles of PIPK genes in healthy individuals during in vitro erythropoiesis using quantitative real-time polymerase chain reaction and to compare these profiles with profiles of globin genes. Our results showed that expression of all PIPKs increases as the cells differentiate, coinciding with the expression profiles of globins. Analysis of the effects of globins on PIPK genes revealed that they varied significantly between the globins, the most noticeable being the effect of a-globin on PIPKIIa (P < 0.0001) and g-globin on PIPKIIg (P < 0.0001). The relationship between the expression of PIPKs and globin genes was statistically significant, particularly between PIPKIIa and a-globin (P = 0.0002) and PIPKIIg and b-globin (P < 0.0001). Linear correlation analysis revealed a strong relationship between PIPKIIa and a-globin genes. This study is the first to establish the expression profiles of PIPK genes during in vitro erythropoiesis in healthy individuals and suggests a parallel between the expression of PIPK and globin genes, reinforcing the hypothesis that they may be related.

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“…In Brazil, its prevalence is high ( Sonati et al , 1991 ; Couto et al , 2003 ; Adorno et al , 2005 ; Wagner et al , 2010 ; Cardoso et al , 2012 ; De Medeiros Alcoforado et al , 2012 ). However, Hb H disease, which is found primarily in Southeast Asia, the Middle East and the Mediterranean, has only rarely been reported in Brazil, where most cases are the result of an interaction of the -α 3.7 deletion with the -- MED , -(α) 20.5 , or -- SEA deletions ( Sonati et al , 1992 ; Wenning et al , 2000 , 2002 , 2009 ; Kimura et al , 2009 ). Combinations of the -α 3.7 deletion with new or rare α 0 deletions started to be detected in the Brazilian population more recently, suggesting that the prevalence of Hb H disease may be underestimated ( Suemasu et al , 2011 ).…”

mentioning

confidence: 99%

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

et al. 2017

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Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

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PIP4KIIA and β‐globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease

Cited by 11 publications

References 14 publications

Localization, regulation and function of Type II phosphatidylinositol 5-phosphate 4-kinases

Localization, regulation and function of Type II phosphatidylinositol 5-phosphate 4-kinases

Expression profiles of phosphatidylinositol phosphate kinase genes during normal human in vitro erythropoiesis

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

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