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Alexandre Reymond, Ph.D. - "Genome structural rearrangements and phenotypes"

Director, Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
When Apr 16, 2018
from 12:00 PM to 01:30 PM
Where Tigem, Auditorium "Vesuvius"
Contact Name
Contact Phone 08119230659
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Abstract
Copy number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 (breakpoint) CNV found in 1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220kb BP2-BP3 CNV is a likewise potent driver of neuropsychiatric, anatomical and metabolic pathologies. These two CNVs-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping and concomitant expression changes, as well as genetic interaction between genes mapping within both intervals, intimating a functional relationship between genes in these regions that might be relevant to pathomechanism. We recently uncovered that the 16p11.2 BP4-BP5 dosage was also associated with age at menarche.
These recurrent pathogenic deletions and duplications are mediated by a complex set of highly identical and directly oriented segmental duplications. This disease-predisposing architecture results from recent, Homo sapiens-specific duplications (i.e. absent in Neandertal and Denisova) of a segment including the BOLA2 gene, the latest among a series of genomic changes that dramatically restructured the region during hominid evolution. 

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