1. Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.
- Author
-
Gregg XT and Prchal JT
- Subjects
- Adult, Animals, Child, Cohort Studies, DNA-Binding Proteins genetics, DNA-Binding Proteins physiology, Disease Models, Animal, Erythropoiesis genetics, Erythropoietin physiology, Ethnicity genetics, Female, Founder Effect, GPI-Linked Proteins, Germ-Line Mutation, Humans, Hypoxia physiopathology, Hypoxia-Inducible Factor 1, Hypoxia-Inducible Factor 1, alpha Subunit, Isoantigens, Janus Kinase 2, Male, Membrane Glycoproteins, Mice, Nuclear Proteins genetics, Nuclear Proteins physiology, Polycythemia classification, Polycythemia congenital, Polycythemia ethnology, Polycythemia metabolism, Polycythemia Vera diagnosis, Polycythemia Vera metabolism, Proteasome Endopeptidase Complex physiology, Protein Processing, Post-Translational, Protein-Tyrosine Kinases genetics, Proto-Oncogene Proteins genetics, Receptors, Cell Surface genetics, Receptors, Erythropoietin genetics, Receptors, Erythropoietin physiology, Russia epidemiology, Transcription Factors genetics, Transcription Factors physiology, Tumor Suppressor Proteins deficiency, Tumor Suppressor Proteins genetics, Ubiquitin metabolism, Ubiquitin-Protein Ligases deficiency, Ubiquitin-Protein Ligases genetics, Von Hippel-Lindau Tumor Suppressor Protein, Polycythemia genetics, Polycythemia Vera genetics
- Abstract
This review will focus on the molecular basis of certain polycythemic disorders. Primary polycythemias are characterized by acquired somatic or inherited germ-line mutations expressed within hematopoietic progenitors that cause increased accumulation of red blood cells. Polycythemia vera (PV), an acquired condition, is the most common primary polycythemia; although some progress has been made in the understanding of PV, its molecular basis remains unknown. In contrast, recent advances in delineating the molecular defects of some inherited polycythemias have greatly furthered our knowledge of the regulation of erythropoiesis and hypoxia sensing; however, more work needs to be done.
- Published
- 2005