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.

journal_name

Eur J Haematol

authors

Wenning MR,Mello MP,Andrade TG,Lanaro C,Albuquerque DM,Saad ST,Costa FF,Sonati MF

doi

10.1111/j.1600-0609.2009.01325.x

subject

Has Abstract

pub_date

2009-11-01 00:00:00

pages

490-3

issue

5

eissn

0902-4441

issn

1600-0609

pii

EJH1325

journal_volume

83

pub_type

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