Article
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Blood - 13 Nov 2014
Costa Joana R, Caputo Valentina S, Makarona Kalliopi, Layton D Mark, Roberts Irene A G, Almeida Antonio M, Karadimitris Anastasios
Abstract excerpt
A rare point mutation in the core promoter -270GC-rich box of PIGM, a housekeeping gene, disrupts binding of the generic transcription factor (TF) Sp1 and causes inherited glycosylphosphatidylinositol (GPI) deficiency (IGD). We show that whereas PIGM messenger RNA levels and surface GPI expression in IGD B cells are low, GPI expression is near normal in IGD erythroid cells. This divergent phenotype results from...
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