Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.
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.
Gregg
Xylina T
XT
Department of Hematology/Oncology, Baylor College of Medicine, One Baylor Plaza, Suite 802E, 4th Floor, Houston, TX 77030, USA.
Prchal
Josef T
JT
D000328:Adult; D000818:Animals; D002648:Child; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D004195:Disease Models, Animal; D004920:Erythropoiesis / Q000235:genetics; D004921:Erythropoietin / Q000502:physiology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D018703:Founder Effect; D058851:GPI-Linked Proteins; D018095:Germ-Line Mutation; D006801:Humans; D000860:Hypoxia / Q000503:physiopathology; D051793:Hypoxia-Inducible Factor 1; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D007519:Isoantigens; D053614:Janus Kinase 2; D008297:Male; D008562:Membrane Glycoproteins; D051379:Mice; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology; D011086:Polycythemia / Q000145:classification / Q000151:congenital / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D011087:Polycythemia Vera / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D046988:Proteasome Endopeptidase Complex / Q000502:physiology; D011499:Protein Processing, Post-Translational; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D017467:Receptors, Erythropoietin / Q000235:genetics / Q000502:physiology; D012426:Russia / Q000453:epidemiology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D025521:Tumor Suppressor Proteins / Q000172:deficiency / Q000235:genetics; D025801:Ubiquitin / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000172:deficiency / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein
C407242:CD177 protein, human; D004268:DNA-Binding Proteins; D058851:GPI-Linked Proteins; C497442:HIF1A protein, human; C497443:Hif1a protein, mouse; D051793:Hypoxia-Inducible Factor 1; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D007519:Isoantigens; D008562:Membrane Glycoproteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; D017467:Receptors, Erythropoietin; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D025801:Ubiquitin; D004921:Erythropoietin; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; C507926:Jak2 protein, mouse; D053614:Janus Kinase 2; D046988:Proteasome Endopeptidase Complex; C497446:VHL protein, human