Reduced expression of TGF β1RII in agnogenic myeloid metaplasia is not due to mutation or methylation

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 β1RII 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 β1RII 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.