RED CELLS, IRON, AND ERYTHROPOIESIS A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
نویسندگان
چکیده
1Biomedical Genetics Section and 2Division of Hematology/Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA; 3Department of Pediatrics and Adolescent Medicine, University of Hong Kong Li Ka Shing Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China; 4Department of Pediatrics and Adolescent Medicine, Chinese University of Hong Kong Faculty of Medicine, and Prince of Wales Hospital, Hong Kong, China; 5Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China; 6Department of Pediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China; 7Department of Pediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, China; Departments of 8Pathology and 9Medicine, University of Hong Kong Li Ka Shing Faculty of Medicine, and Queen Mary Hospital, Hong Kong, China; 10Department of Biostatistics, Boston University School of Public Health, Boston, MA; Departments of 11Neurology, 12Genetics & Genomics, 13Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA; and 14Center for Human Genetics, Boston University School of Medicine, Boston, MA
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RED CELLS, IRON, AND ERYTHROPOIESIS The c-Myb target gene neuromedin U functions as a novel cofactor during the early stages of erythropoiesis
The requirement of c-Myb during erythropoiesis spurred an interest in identifying c-Myb target genes that are important for erythroid development. Here, we determined that the neuropeptide neuromedin U (NmU) is a c-Myb target gene. Silencing NmU, c-myb, or NmU’s cognate receptor NMUR1 expression in human CD34 cells impaired burst-forming unit-erythroid (BFU-E) and colony-forming unit-erythroid ...
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Iron-regulatory proteins (IRPs) 1 and 2 posttranscriptionally regulate expression of transferrin receptor (TfR), ferritin, and other iron metabolism proteins. Mice with targeted deletion of IRP2 overexpress ferritin and express abnormally low TfR levels in multiple tissues. Despite this misregulation, there are no apparent pathologic consequences in tissues such as the liver and kidney. However...
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Although hematopoietic stem cell transplantation and gene therapy have the potential to cure -thalassemia and sickle cell disease, they are not currently available to most people with these diseases. In the near term, pharmacologic induction of fetal hemoglobin (HbF) may offer the best possibility for safe, effective, and widely available therapy. In an effort to define new pathways for targete...
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Thalassemia is a highly progressive hemolytic anemia with different levels of complexity in patients. In thalassemia, reduced level of synthesis of hemoglobin chains results in an imbalanced production of alpha and beta globin chains, and sedimentation of unpaired chains inside red blood cells is the beginning of complications among thalassemia patients. Nowadays compatible blood transfusion is...
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