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Global impact of balanced X-AUTOSOME translocations on chromatin architecture

Grant number: 14/22641-0
Support Opportunities:Scholarships abroad - Research Internship - Doctorate
Effective date (Start): March 06, 2015
Effective date (End): March 05, 2016
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Maria Isabel de Souza Aranha Melaragno
Grantee:Mariana Moysés Oliveira
Supervisor: Alexandre Reymond
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Research place: Université de Lausanne (UNIL), Switzerland  
Associated to the scholarship:13/23768-1 - In vivo and in vitro functional study of AMMECR1 gene and clinical follow up of a patient without functional copies of this gene, BP.DR


Balanced structural rearrangements may induce position effects by modifying specific cis- and trans-acting DNA regulatory element, thus changing the overall chromatin topology and DNA accessibility. Disease-associated balanced chromosomal rearrangements are good paradigms to assess the mechanism underlying these genome reorganizations. Women with balanced X-autosome translocations constitute a heterogeneous group of patients as the phenotypic outcomes depend both on the location of the breakpoints and the X-chromosome inactivation pattern. As in the majority of patients, the normal X-chromosome is preferentially inactivated, balanced X-autosome translocations are a useful model to assess the genome-wide effects of balanced rearrangements. We propose to investigate the impact of genome reorganization in patients with balanced X-autosome translocations by combining RNA-seq, ChIP-seq and 4C-seq (chromatin conformation capture) data. Cross-feeding of these information should unravel if balanced X-autosome translocations induce large-scale chromatin conformation in various ways, e.g. influencing expression levels of breakpoint flanking genes and other gene sequences genome-wide. (AU)

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