期刊
CELL REPORTS
卷 19, 期 8, 页码 1586-1601出版社
CELL PRESS
DOI: 10.1016/j.celrep.2017.04.069
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资金
- FEDER (Fondo de Investigaciones Sanitarias/Instituto de Salud Carlos III) [PI13/00160, PI14/00025]
- Fundacion Inocente Inocente
- ARIMMORA EU/FP7 project
- Spanish National Research Council (CSIC, FEDER)
- Spanish National Research Council (CSIC) [JAEINT_15_01981]
- JSTP PRESTO program [4201]
- MEXT of Japan [22131003, 15H01345]
- NIH [R01GM086852, R01GM112192, K99GM117302]
- Instituto de Salud Carlos III
- Ministry of Science and Innovation through the Programa tecnicos de apoyo (PTA)
- RED-BIO project of the Spanish National Bioinformatics Institute (INB) [PT13/0001/0044]
- Spanish National Health Institute Carlos III (ISCIII)
- Spanish Ministry of Economy and Competitiveness (MINECO)
- Ministry of Economy and Competitiveness of Spain [PTA2014-09515-I]
- Spanish Institute of Health Carlos III (ISCIII) [CP14/00229]
- Fundacion 1.000 sobre Defectos Congenitos
- Grants-in-Aid for Scientific Research [15H01345, 22131003] Funding Source: KAKEN
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirsch-horn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients.
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