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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

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Autor(es):
Wenning, Marcia R. S. C. [1] ; Mello, Maricilda P. [2] ; Andrade, Tiago G. [3] ; Lanaro, Carolina [3] ; Albuquerque, Dulcineia M. [3] ; Saad, Sara T. O. [3] ; Costa, Fernando F. [3] ; Sonati, Maria F. [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Estadual Campinas, Dept Clin Pathol, Sch Med Sci, UNICAMP, BR-13083970 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Mol Biol & Genet Ctr, CBMEG, UNICAMP, BR-13083970 Campinas, SP - Brazil
[3] Univ Estadual Campinas, Hematol & Hemotherapy Ctr, UNICAMP, BR-13083970 Campinas, SP - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: EUROPEAN JOURNAL OF HAEMATOLOGY; v. 83, n. 5, p. 490-493, NOV 2009.
Citações Web of Science: 7
Resumo

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. (AU)

Processo FAPESP: 02/13801-7 - Alterações hereditárias das hemoglobinas: genética molecular, aspectos da evolução clínica e produção de animais transgênicos
Beneficiário:Fernando Ferreira Costa
Linha de fomento: Auxílio à Pesquisa - Temático