Alternate splicing produces a soluble form of the hereditary hemochromatosis protein HFE
| Autor: | Paul C. Adams, Gary Jeffrey, Kerrie A Basclain, Subrata Chakrabarti, Jan Hajek |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Molecular Sequence Data Genes MHC Class I Biology digestive system Polymerase Chain Reaction HLA Antigens medicine Humans RNA Messenger education Hemochromatosis Protein Molecular Biology Hemochromatosis education.field_of_study Messenger RNA Hereditary Hemochromatosis Protein Base Sequence digestive oral and skin physiology Alternative splicing Histocompatibility Antigens Class I nutritional and metabolic diseases RNA Membrane Proteins Cell Biology Hematology Iron deficiency medicine.disease Molecular biology Alternative Splicing Hereditary hemochromatosis Molecular Medicine HFE Protein |
| Zdroj: | Blood cells, moleculesdiseases. 25(1) |
| ISSN: | 1079-9796 |
| Popis: | HFE is a non-typical MHC class 1-type protein that is mutated in hereditary hemochromatosis. The purpose of this study was to identify possible splice variants of HFE mRNA and investigate the regulation of these isoforms in duodenum and liver of patients with normal and altered iron stores. RT-PCR was performed using HFE specific primers and duodenal RNA obtained from patients with hemochromatosis, iron deficiency, secondary iron overload and normal controls. The reaction products were visualized by Southern blot and identified by DNA sequence analysis. Additional studies were performed on RNA isolated from liver and a range of human tissues. A truncated (soluble) form of HFE protein was identified that lacks the transmembrane domain and occurs as a result of alternative splicing. Soluble HFE was found predominantly in the duodenum, spleen, breast, skin and testicle. In hereditary hemochromatosis full length HFE was the predominant isoform present in the duodenum similar to iron deficiency. Alternate splicing produces soluble HFE that may have a unique function to regulate cellular iron transport. |
| Databáze: | OpenAIRE |
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