Differential HFE gene expression is regulated by alternative splicing in human tissues.

ABSTRACT:

Background

The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants.

Methodology/principal findings

Alternatively spliced HFE transcripts in diverse human tissues were identified by RT-PCR, cloning and sequencing. Total HFE transcripts, as well as two alternative splicing transcripts were quantified using a real-time PCR methodology. Intracellular localization, trafficking and protein association of GFP-tagged HFE protein variants were a

SUBMITTER: Martins R 

PROVIDER: S-EPMC3048171 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature