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News-in-brief / 12.20.15

Study explores mutation’s paradoxical role in myeoloproliferative neoplasms

By Broad Communications

Myeloproliferative neoplasms (MPNs) are a series of blood disorders that tend to lead to acute myeloid leukemia (AML). The most common genetic mutation in MPNs is called JAK2V617F, an activating mutation in JAK2 kinase. Although JAK2V617F has been associated with increased DNA damage, MPNs are diseases characterized by genomic stability.

In a recent paper published by Cell Reports, Broad associate member and senior author Ann Mullally, first author Edwin Chen, and colleagues address this paradox by showing that a DNA helicase called RECQL5 suppresses genomic instability in MPNs even as JAK2V617F instigates a state of DNA damage.