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Projects. Life and Earth Sciences

Molecular basis of immune deficiency in wolf-hirschhorn syndrome (4p-)

Lead Researcher: César Cobaleda Hernández
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid.

Abstract: 

César Cobaleda HernándezWolf-Hirschhorn Syndrome (WHS) is a rare disease caused by the loss of genetic material at the end of the chromosome 4 "p" arm. Patients suffer from many problems (cranial malformations, epilepsy, mental retardation…) whose molecular bases are still poorly understood. One important cause of mortality in WHS patients are infections, triggered by syndrome-associated immunodeficiencies. One of the genes deleted in WHS is Wolf-Hirschhorn Syndrome Candidate 1 (WHSC1), an epigenetic regulator involved in transcriptional control and in DNA repair, whose overexpression or activation are also associated with other hematologic pathologies like multiple myeloma and childhood acute lymphoblastic leukemias. Our research group is studying genetically engineered mouse models of WHS, and we have shown that Whsc1 is involved in hematopoietic development by controlling the survival of hematopoietic stem cells, and in the immune response by regulating B cell differentiation and mature B cell antibody production. We also have blood samples from human patients. In this Project we want to combine the power of having access to human samples and to advanced animal models to gain new insight into the molecular role of WHSC1 in hematopoietic development and immune responses. We intend to perform a multidisciplinary approach combining the synergies and expertises of two different research groups with ample experience in the characterization of mouse models and in the study of genome stability and replication. Our hope is that clarifying the molecular causes of the disease would help improving the clinical management and the quality of life of WHS patients.


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