Unknown

Dataset Information

0

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

ABSTRACT: Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn 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.

SUBMITTER: Campos-Sanchez E 

PROVIDER: S-EPMC5510986 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn 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  ...[more]

Similar Datasets

Unknown Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.
| S-EPMC7905666 | biostudies-literature
Unknown Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
| S-EPMC3953918 | biostudies-literature
Unknown Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
| S-EPMC3234504 | biostudies-literature
Unknown Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
| S-EPMC7694380 | biostudies-literature
Unknown A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.
| S-EPMC6585685 | biostudies-literature
Unknown Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.
| S-EPMC4582100 | biostudies-literature
Unknown Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).
| S-EPMC2413080 | biostudies-other
Unknown Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
| S-EPMC3201566 | biostudies-literature
Unknown Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.
| S-EPMC5867687 | biostudies-literature
Unknown De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
| S-EPMC6683463 | biostudies-literature