title: PIP4KIIA and beta-globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease.
abstract: We are reporting here the results of differential gene expression experiments comparing two siblings, a 21-yr-old male and a 19-yr-old female, with the same alpha-thalassemia genotype (-alpha(3.7)/(--SEA)) and quite different levels of Hb H in the peripheral blood (18.7 and 5%, respectively). By using mRNA differential-display reverse-transcription-PCR and suppression subtractive hybridization, two main transcripts were selected in both procedures and validated by qRT-PCR, one corresponding to the phosphatidylinositol phosphate 4-kinase type II-alpha (PIP4KIIA) gene and the other to the beta-globin gene, both over expressed in the patient with the higher percentage of Hb H. Type II PIP kinases produce phosphatidylinositol 4,5 biphosphate, a critical and pleiotropic regulatory molecule involved in diverse cellular activities, including gene expression. Our results suggest that PIP4KIIA may be one of the factors related to the regulation of the beta-globin gene expression and the different levels of Hb H in alpha-thalassemic patients.
authors: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas, UNICAMP, Campinas, São Paulo, Brazil.
authors: Marcia R S C
authors: MR
authors: Wenning
authors: Maricilda P
authors: MP
authors: Mello
authors: Tiago G
authors: TG
authors: Andrade
authors: Carolina
authors: C
authors: Lanaro
authors: Dulcineia M
authors: DM
authors: Albuquerque
authors: Sara T O
authors: ST
authors: Saad
authors: Fernando F
authors: FF
authors: Costa
authors: Maria F
authors: MF
authors: Sonati
mesh_terms: D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D006447:Hemoglobin H / Q000096:biosynthesis*; D006801:Humans; D008297:Male; D019269:Phosphatidylinositol 4,5-Diphosphate / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000096:biosynthesis*; D012156:Reticulocytes / Q000201:enzymology*; D035781:Siblings; D055815:Young Adult; D017085:alpha-Thalassemia / Q000201:enzymology*; D055544:beta-Globins / Q000096:biosynthesis*
chemical_list: D019269:Phosphatidylinositol 4,5-Diphosphate; D055544:beta-Globins; D006447:Hemoglobin H; C514871:PIP4K2A protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor)