96033 - DNA Regulatory Elements in Cell Identity and Disease

Learning outcomes

At the end of the course, the student: - knows the DNA elements that regulate transcription in eukaryotes, through the deepening of complex experimental approaches that allow both, their identification in the genome and their functional characterization. Moreover, he knows examples of DNA elements required for cell identity and how the alteration of these elements can lead to specific diseases. - knows how to design complex experimental approaches for the characterization of the molecular mechanisms that regulate the transcription of any gene.

Course contents

General introduction to eukaryotic transcription and its molecular components 

Identification of DNA elements: promoters, enhancers, silencers, insulators

Methods for enhancer characterization: DNA sequence, TF binding motifs, biochemical annotations (3D conformation mapping, single-cell molecular profiling)

Technologies for measuring enhancer activity (MPRA, CRISPR-based screens of non coding sequences)

Mechanisms of enhancer action

Long range chromatin interactions and regolatory network

Enhancer-derived RNA (eRNA)

Enhancer-promoter interactions related to disease

3D organization of the genome

Topologically associating domain (TAD)

Enhancer/promoter loops.

Super enhancers: Cell identity genes; activity in Cancer

Readings/Bibliography

No textbook is suggested, but all original scientific articles and reviews on the different contents of the program will be provided by the teacher.

Teaching methods

The 6 CFU course is held by Prof. Davide Ambrosetti and consists of lectures with the goal of making the student acquire the fundamental principles of the role played by the regulatory DNA elements on the regulation of gene expression in eukaryotes.

Assessment methods

Verification of learning takes place through a final exam that evaluate the knowledge and skills expected, by carrying out a written test taken without the help of notes or books.

Teaching tools

Personal computer and video projector.

Office hours

See the website of Davide Carlo Ambrosetti