Andres Tapia del Fierro - Epigenetics & Development division

Andres Tapia del Fierro - Epigenetics & Development division

Location: 
Online
Start Time: 
Wed, 06/10/2021 - 1:00pm
End Time: 
Wed, 06/10/2021 - 2:00pm

WEHI Wednesday Seminar hosted by Professor Marnie Blewitt

 

Andres Tapia del Fierro

PhD Student - Blewitt Lab, Epigenetics & Development division - Healthy Development & Ageing Theme

 

Smchd1: chromatin architecture and/or gene regulation?

 

Join via TEAMS

Including Q&A session

 

Smchd1 is an epigenetic silencer essential for setting up long-range chromatin architecture at its target loci that include Hox genes, imprinted genes, and the inactive X chromosome . Lack of Smchd1 is lethal to female mice during embryonic development due to its role in X chromosome inactivation. It is also directly involved in two human diseases, a muscular dystrophy called FSHD and a craniofacial malformation called BAMS. However, its molecular mechanism of action is still unknown. This makes it an interesting focus of research, for the insights it can provide into the interplay of three-dimensional chromatin structure and gene expression regulation, as well as being a potential target for human therapies.

 

We have studied a mutant variant of Smchd1 which behaves as gain-of-function in gene silencing contexts and as a loss-of-function in mediating chromatin architecture. This seminar will summarise the results caused by this mutation in gene expression, chromatin architecture and skeletal morphology. These results show that Smchd1’s gene silencing function is independent of its chromatin architecture role, adding to very recent findings in the field showing similarly independent effects for other epigenetic regulators.

 

Andres Tapia del Fierro received his MSc in Organic and Medicinal Chemistry from the National Graduate School of Chemistry (ENSCM) in Montpellier, France in 2016. He joined the Blewitt lab in the Molecular Medicine Division (now Epigenetics and Development Division) first in 2016 during his Master’s, then again in 2017 for his PhD. He has worked in multiple projects studying X chromosome inactivation and Smchd1 in different contexts, with a strong focus in wet lab genomics techniques and dry lab bioinformatics analysis.



All welcome!