BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans

Human blood cell counts are tightly maintained within narrow physiologic ranges, largely controlled by cytokine-integrated signaling and transcriptional circuits that regulate multilineage hematopoietic specification. Known genetic loci influencing blood cell production account for

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Bibliographic Details
Published in:Blood 2016-08, Vol.128 (5), p.699-709
Main Authors: Wu, Song, Li, Zongdong, Gnatenko, Dmitri V., Zhang, Beibei, Zhao, Lu, Malone, Lisa E., Markova, Nedialka, Mantle, Timothy J., Nesbitt, Natasha M., Bahou, Wadie F.
Format: Article
Language:English
Subjects:
Alleles
Antigens, CD34 - metabolism
Blood Platelets - metabolism
Cell Lineage
Cohort Studies
Erythroid Cells - cytology
Erythroid Cells - enzymology
Genetic Association Studies
Hematopoiesis
Heme - metabolism
Humans
Megakaryocytes - cytology
Megakaryocytes - enzymology
Metabolic Networks and Pathways
Mutation - genetics
Oxidation-Reduction
Oxidoreductases Acting on CH-CH Group Donors - genetics
Platelets and Thrombopoiesis
Polymorphism, Single Nucleotide - genetics
Reactive Oxygen Species - metabolism
Risk Factors
Sequence Analysis, RNA
Thrombocytosis - genetics
Thrombopoiesis - genetics
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Description
Summary:Human blood cell counts are tightly maintained within narrow physiologic ranges, largely controlled by cytokine-integrated signaling and transcriptional circuits that regulate multilineage hematopoietic specification. Known genetic loci influencing blood cell production account for
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2016-02-696997