Bi

Structural variation in the 3D genomic era: Implications for disease and evolution

Date
Nov 5, 2020
Time
11:00 AM - 12:00 PM
Speaker
Darío Jesús Lupiáñez García
Affiliation
Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-GemeinschaftBerlin-Mitte (BIMSB), Germany
Series
MPI-CBG Thursday Seminar
Language
en
Main Topic
Biologie
Host
Nadine Vastenhouw
Description
The three-dimensional (3D) folding of chromatin is critical to accommodate the roughly two meters of DNA within the nucleus of a eukaryotic cell. On a large scale, chromosomes display a non-random nuclear organization, highly influenced by their gene density and transcriptional status. At sub-chromosomal resolution, the spatial organization of chromatin brings distant genomic sites into close proximity. At this level, topologically associating domains (TADs) emerge as a fundamental structural unit that guides regulatory elements to their cognate promoters, to induce transcription.
Structural and quantitative chromosomal rearrangements, collectively referred to as Structural Variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer, rare diseases and evolutionary genetics. SVs can not only affect gene dosage, but also alter the copy number of regulatory elements or modify the 3D genome by disrupting higher-order chromatin organization such as TADs. As a result of these position effects, SVs can influence the expression of genes distant from the breakpoints, thus causing the appearance of certain pathogenic phenotypes or evolutionary traits.
In this talk, I will show examples at different genomic loci, highlighting the potential of SVs to induce developmental disease by distinct pathomechanisms. Furthermore, I will discuss about the iberian mole Talpa occidentalis, a unique case of true XX mammalian hermaphroditism, and a prominent example of how SVs can also be a force of evolutionary innovation.

Last modified: Nov 6, 2020, 12:09:58 AM

Location

Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG Auditorium (big half))Pfotenhauerstraße10801307Dresden
Phone
+49 351 210-0
Fax
+49 351 210-2000
E-Mail
MPI-CBG
Homepage
http://www.mpi-cbg.de

Organizer

Max Planck Institute of Molecular Cell Biology and GeneticsPfotenhauerstraße10801307Dresden
Phone
+49 351 210-0
Fax
+49 351 210-2000
E-Mail
MPI-CBG
Homepage
http://www.mpi-cbg.de
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