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Journal article

Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.

Abstract:

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 differential promoter chromatin accessibility and binding of Sp1. Specifically, wh...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1182/blood-2014-09-598813

Authors


Caputo, VS More by this author
Makarona, K More by this author
Layton, DM More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Paediatrics
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Fundacao para a Ciencia e Tecnologia More from this funder
Medical Research Council More from this funder
Sir Halley Stewart Trust More from this funder
National Institute of Health Research More from this funder
Publisher:
American Society of Hematology Publisher's website
Journal:
Blood Journal website
Volume:
124
Issue:
20
Pages:
3151-3154
Publication date:
2014-11-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:7dda4e07-499f-4447-9d6c-dd695927e843
Source identifiers:
493205
Local pid:
pubs:493205

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