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Thursday, 13th May, 2021, 12:00

Identifying genomic variants acting on brain specializations

PRBB Computational Genomics Seminars, Chair: Mar AlbĂ  (Head of Evolutionary Genomics Group) Humans possess a nervous system which confers very distinct cognitive abilities and very distinct cognitive disorders. The study of brain development is critical for the understanding of the evolution of these distinct features. To discern the genetic causes in evolution and disease influencing human-specific phenotypes one needs to identify the relevant variants affecting relevant genes among thousands of other variants predicted to be neutral. Among the approximately 35 million single nucleotide polymorphisms (SNPs), 5 million insertions or deletions (indels), and 90 megabases of structural variants where the human and chimpanzee genomes differ are countless variants associated with development, function or disease. However, identifying these rare variants from among the thousands of variants expected to be neutral is a herculean task, a truly "needle-in-a-haystack" scenario. Many of us have reasoned that identifying evolutionarily relevant genetic variants, as well as those implicated in disease or function, can be guided by the analysis of species differences in intermediate molecular phenotypes (e.g., transcriptomic and epigenomic signatures), which are most likely the primary effects of genomic variation. Going one step further in the strategy to identify evolutionarily relevant variants, one can interrogate divergence in the segments of the predicted regulatory elements that are directly functionally affecting gene expression: the transcription factor binding sites (TFBS). The study of the brain spatiotemporal convergence of risk for multiple neuropsychiatric traits has pointed to a reduced number of transcription factors with critical involvement in normal neurodevelopment. We aim to dissect the temporal dynamics of genome-wide transcription factor binding site occupancy for a selection of risk convergence transcription factors (TF) at different stages of neurodevelopment and with an evolutionary perspective.  But even when the connection has strong probability of causality, one still needs to demonstrate the mechanisms underlying the phenotypic change, which is an effort rarely pursued by evolutionary biologists. This project aims to deal with these two problems by i) reduce the search space for relevant variants into a tractable list, and ii) test their functional effects in a system proximal to human fetal brain development consisting in iPSC-derived neural cultures. Webinar: https://us02web.zoom.us/j/81073249721   Password: 788137 IMPORTANT: This is a webinar and all participants (excluding the speaker(s) and chair(s)) will have their microphones muted and their cameras disconnected. After the presentation, participants can RAISE HAND (option available at the bottom of your screen) if they want to ask questions or comments. The speaker or chair will activate the microphone and let you participate.

Speaker: Gabriel Santpere, Head of the Neurogenomics Group, GRIB (IMIM/UPF)

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