Current lab members:
- Gael Cristofari (DR2, Inserm)
- Sabrina Sacconi (PU-PH, CHU)
- Aurélien Doucet (CRCN, CNRS)
- Sophie Lanciano (Postdoc)
- Misaki Matsuo (Postdoc)
- Victor Billon (PhD student)
- Larisa Okorokova (PhD student)
- Emanuela Repetto (IE, UniCA)
- Salomé Retailleau (Engineer)
- Humaira Choudhury (Erasmus Master Student (Univ. of Milan IT))
Lab Alumni:
One of the most surprising discoveries made by large scale genome projects – and one of their most difficult challenges – has been the abundance of repetitive DNA in eukaryotic genomes. For example, our chromosomes contain nearly 50% of DNA repeats. Remarkably, the vast majority of these sequences results from the activity of transposable elements. These mobile DNA sequences, also known as “jumping genes”, can multiply and/or disperse by cut-and-paste or copy-and-paste mechanisms. Our main objectives are to understand how transposable elements contribute to the plasticity of the human genome and epigenome, and what are their consequences at the molecular, cellular and physiological levels. Our lab combines biochemistry, molecular and cellular biology, genome engineering, genomics and bioinformatics to address these questions.
In humans, the only active and autonomous transposable element family is a group of retrotransposons of the LINE-1 (L1) clade, named L1HS and unique to the human lineage. Thus, we mostly focused our work on this family. Each individual has hundreds of L1HS copies absent from the reference genome (polymorphic L1 insertions), which contribute to our genetic diversity. L1HS is not only able to mobilize in the germline – resulting in inheritable genetic variations, and occasionally in genetic disease – but can also be active in some somatic tissues, such as the brain, in many epithelial cancers, and during normal or pathological aging.
The strength and originality of our research lies in our ability to study transposable elements at the level of individual copies. A central aspect of this work has been the development of ATLAS-seq, a deep-sequencing approach to comprehensively map the position of L1 elements in individual human genomes, as well as variation of this technique to assess the DNA methylation level of each L1 copy genome-wide. More recently, we leveraged nanopore sequencing with ultra-long reads, as well as CRISPR-Cas9 genome and epigenome editing, to study L1-mediated genome and epigenome variations.
Current Projects
Top Publications
Lab News
-
Fête de la Science 2024
IRCAN was once again present at the Village des Sciences de Nice on October 11, 12 and 13 to talk about our research with: – middle and high school students […]
-
New Website!
Please enjoy our new website! We want to create a imersive hub for all news and events in the fields of cancer and ageing. if you see an error, please […]
-
Article published in the Inserm Magazine n°60
Read about the work of Gael Cristofari’s team on the high-resolution epigenetic map of « jumping genes » (in French). Find all « Inserm, the magazine » publications (in English)
-
Article published in Nice Matin on a new aspect of our genetic makeup, focusing on « jumping genes ».
The article discusses the discovery of a new aspect of our genetic makeup, focusing on « jumping genes » or transposons that were previously thought to be dormant for millennia but are […]
Find out what projects IRCAN researchers are working on at the moment!
Find out about our platforms and services that drive our research.
IRCAN has a diverse research teams, tackling a wide range and resolution of topics in ageing and cancer.