The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans
نویسندگان
چکیده
منابع مشابه
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans.
Common sequence variants situated between the HBS1L and MYB genes on chromosome 6q23.3 (HMIP) influence the proportion of F cells (erythrocytes that carry measurable amounts of fetal hemoglobin). Since the physiological processes underlying the F-cell variability are thought to be linked to kinetics of erythrocyte maturation and differentiation, we have investigated the influence of the HMIP lo...
متن کاملA 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese β-thalassemia heterozygotes. In this population, the variance in HbF resulting from the HMIP is 13.5%; that resulting from the BCL11A polymorphism is 6.4%. To identify the funct...
متن کاملHBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte c...
متن کاملRED CELLS, IRON, AND ERYTHROPOIESIS A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
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, a...
متن کاملThe HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.
HBS1L-MYB intergenic polymorphism (HMIP) on chromosome 6q23 is associated with elevated fetal hemoglobin levels and has pleiotropic effects on several hematologic parameters. To investigate potential regulatory activity in the region, we have measured sensitivity of the sequences to DNase I cleavage that identified 3 tissue-specific DNase I hypersensitive sites in the core intergenic interval. ...
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ژورنال
عنوان ژورنال: Blood
سال: 2007
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2007-05-093419