Transcriptomics

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GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2- mutated MDS/AML


ABSTRACT: Although familial myelodysplasia and acute myeloid leukemia (MDS/AML) is rare, its true prevalence is likely underestimated due to wide variations in the age of onset, disease latency and outcome between and within families, with some mutation carriers remaining asymptomatic into late adulthood. Reduced penetrance is a notable feature of germline GATA2 p.Thr354Met pedigrees. In this study, we demonstrate that silencing of the wildtype (WT) GATA2 allele discriminates between symptomatic and asymptomatic carriers and is linked with allele-specific differences in DNA methylation and H3K4me3 promotor deposition, providing a molecular explanation for the clinical heterogeneity observed within a GATA2-mutated AML family.

ORGANISM(S): Homo sapiens

PROVIDER: GSE104570 | GEO | 2018/09/21

REPOSITORIES: GEO

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