Alpha Thalassemia

Findings from Mount Sinai School of Medicine Broaden Understanding of Alpha Thalassemia

Published in Hematology Week, April 9th, 2012

2012 APR 9 -- "The histone variant macroH2A generally associates with transcriptionally inert chromatin; however, the factors that regulate its chromatin incorporation remain elusive. Here, we identify the SWI/SNF helicase ATRX (alpha-thalassemia/MR, X-linked) as a novel macroH2A-interacting protein," scientists writing in the journal Genes & Development report.

"Unlike its role in assisting H3.3 chromatin deposition, ATRX acts as a negative regulator of macroH2A's chromatin association. In human erythroleukemic cells deficient for ATRX, macroH2A accumulates at the HBA gene cluster on the subtelomere of chromosome 16, coinciding with the loss of...

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Source: Hematology Week (2012-04-09)

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