title: Reduced expression of TGF beta1RII in agnogenic myeloid metaplasia is not due to mutation or methylation.
abstract: Agnogenic myeloid metaplasia (AMM) is characterized by bone marrow fibrosis and enhanced proliferation of megakaryocytes and CD34+ cells. We have analyzed the factors that could lead to reduced expression of TGF beta1RII in CD34+ cells of AMM patients. Our results demonstrate absence of mutations in the coding region and the promoter of this gene and absence of CpG methylation of its promoter in AMM patients. Further studies on transcriptional regulation of TGF beta1RII involving its cis-regulatory elements, the interacting transcription factors and their association with HDAC will provide valuable information on the pathogenesis of AMM and are under current investigation.
authors.affiliation: Division of Hematology/Oncology, Department of Medicine, Maimonides Medical Center, 953, 49th Street, Brooklyn, NY 11219, USA.
authors.forename: Kirugaval C
authors.initials: KC
authors.lastname: Hemavathy
authors.forename: Tsong H
authors.initials: TH
authors.lastname: Chang
authors.forename: Haowei
authors.initials: H
authors.lastname: Zhang
authors.forename: William
authors.initials: W
authors.lastname: Charles
authors.forename: Amit
authors.initials: A
authors.lastname: Goldberg
authors.forename: Sramila
authors.initials: S
authors.lastname: Aithal
authors.forename: Allan D
authors.initials: AD
authors.lastname: Novetsky
authors.forename: Jen C
authors.initials: JC
authors.lastname: Wang
mesh_terms: D049109:Cell Proliferation; D018899:CpG Islands; D019175:DNA Methylation; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics*; D006655:Histone Deacetylases / Q000378:metabolism; D006801:Humans; D008297:Male; D008533:Megakaryocytes / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D055728:Primary Myelofibrosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D011401:Promoter Regions, Genetic; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000096:biosynthesis* / Q000235:genetics; D014157:Transcription Factors / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D014157:Transcription Factors; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D006655:Histone Deacetylases