Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome-Reference-Cited by-同舟云学术

Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome

Published:2014-11-27 Issue:23 Volume:124 Page:3409-3419
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Sarkar Koustav¹²,Sadhukhan Sanjoy²,Han Seong-Su¹,Vyas Yatin M.¹²^ORCID

Affiliation:

1. Division of Pediatric Hematology-Oncology, University of Iowa Children’s Hospital, Iowa City, IA; and

2. Division of Pediatric Hematology-Oncology, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA

Abstract

Key Points hSWI/SNF requires WASp to remodel IFNG and TBX21 loci in T-helper (TH)1 cells. WAS-causing but not XLT-causing hot-spot mutations impair SWI/SNF-activity at TH1 gene promoters.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/23/3409/1381845/3409.pdf

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4. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.;Villa;Nat Genet,1995

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