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Marasca, F.

Publications and source records attributed to Marasca, F..

3 recordsLinked to original sources

The human RNA-DNA interactome is cell type-specific and dynamic

More than twenty years ago, the FANTOM consortium uncovered that mammalian genomes are pervasively transcribed, revealing multitudes of RNAs with unknown functions. A subset of these transcripts has since then been linked to transcriptional control and to chromatin organization via their ability to interact with DNA, suggesting that chromatin-associated RNAs could be key players in genome regulation. Although recent technological advances now enable the mapping of genome-wide RNA-DNA contacts, a lack of analyses integrating these methods with other genomic features and across multiple cellular contexts hinders our comprehensive understanding of the principles underlying RNA-DNA interactions and of their biological importance. As part of the FANTOM6 project, we thus generated RNA-DNA interaction maps in 16 different human cell types, then combined these contacts with multiple layers of other genomic data to investigate how patterns of interaction between RNA and DNA relate to chromatin organization and function. We show that the RNA-DNA interactome is highly dynamic yet reproducibly organized in cell-type specific networks, constituted of a great diversity of interactions that vary in function of their distance, the nature of their sources and the chromatin state of their targets. In particular, we detected numerous regulatory elements that exhibit marked changes in activity when differentially bound by transcripts, implying that thousands of RNA-DNA interactions can play a mechanistic role in gene expression. This regulatory function correlates with RNA-protein interactions and significantly associates with cell type-relevant and disorder-related traits. In addition to providing essential resources for future research in RNA-mediated chromatin regulation, cellular biology and human diseases, our study thus establishes the RNA-DNA interactome as a new genome regulatory layer that defines and maintains cellular identity and behavior.

genomics↗

IRescue: single cell uncertainty-aware quantification of transposable elements expression

Transposable elements (TEs) are mobile DNA repeats that contribute to the evolution of eukaryotic genomes. In complex organisms, TE expression is tissue specific. However, their contribution to cellular heterogeneity is still unknown and challenging to investigate in single-cell RNA sequencing (scRNA-seq), due to the ubiquity and homology of TEs in the genome. We introduce IRescue (Interspersed Repeats single-cell quantifier), the first software that accurately estimates the expression of TE subfamilies at single-cell level, implementing a UMI deduplication algorithm to allocate reads ambiguously mapped on TEs, while correcting for UMI sequencing errors. Applying IRescue on simulated datasets and real scRNA-seq of colorectal cancers, we could precisely estimate TE subfamilies expression. We show that IRescue improves the definition of cellular heterogeneity, detecting TE expression signatures and specific TE-containing splicing isoforms.

bioinformatics↗

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in FSHD

Despite increasing insights in genome structure organization, the role of DNA repetitive elements, accounting for more than two thirds of the human genome, remains elusive. Facioscapulohumeral Dystrophy (FSHD) is associated with deletion of D4Z4 repeat array below 11 units at 4q35.2. It is known that the deletion alters chromatin structure in cis, leading to genes upregulation. Here we show a genome-wide role of 4q-D4Z4 array in modulating gene expression via 3D nuclear contacts. We have developed an integrated strategy of 4q-D4Z4 specific 4C-seq and chromatin segmentation analyses, showing that 4q-D4Z4 3D interactome and chromatin states of interacting genes are impaired in FSHD1 condition; in particular, genes which have lost the 4q-D4Z4 interaction and with a more active chromatin state are enriched for muscle atrophy transcriptional signature. Expression level of these genes is restored by the interaction with an ectopic 4q-D4Z4 array, suggesting that the repeat directly modulates the transcription of contacted targets.\n\nOf note, the upregulation of atrophic genes is a common feature of several FSHD1 and FSHD2 patients, indicating that we have identified a core set of deregulated genes involved in FSHD pathophysiology.

genomics↗