3. REGULATION OF CHROMOSOME STRUCTURE AND FRAGILITY BY COHESIN AND SMC5/6

  

3.1. Chromosome structure modulation by cohesin and its regulators, ESCO1/2 and DDX11.

We recently reported a role for ESCO1/2 acetyltransferases in the formation of interphase chromosome territories (Kawasumi et al., Genes Dev, 2017). We plan to investigate the DNA interactions and cohesin locations affected by ESCO1/2 as well as its relevant targets.

Team members: Ryotaro Kawasumi

  

3.2. Chromosome structure modulation by SMC5/6.

We plan to study the roles of human SMC5/6 in regulating chromatin architecture and fragility.

Team members: Alessandro Morea (to

  

3.3. ESCO2 and DDX11 roles in development

Warsaw breakage syndrome (WABS) and Roberts Syndrome (RBS) are related recessive developmental disorders caused by mutations in DDX11 and ESCO2 genes affecting cohesin functions. To underpin the molecular basis of these developmental disorders, characterized by craniofacial deformities, mental retardation and chromosome structural abnormalities, we are using Esco2 mutant fish and established Ddx11 mutations in zebrafish embryos. Studies of gene expression deregulation suggest problems in neurodifferentiation associated with neurodegeneration.

Team members: Valeria Mastrodonato