Marco Trizzino

Human-specific retrotransposons encode the regulatory logic of two lineages in a bipotent neural crest and central nervous system precursor

The paper identifies human-specific retrotransposons as regulatory elements in bipotent neural crest and central nervous system precursors, showing their association with gene expression and transcription factor motifs.

Array-CNCC: precise aggregation and arrayed plating facilitate quantitative phenotyping of human cranial neural crest cells and craniofacial disease modelling

Neural crest induction requires SALL4-mediated BAF recruitment to lineage specific enhancers

This study shows SALL4 recruits BAF to CNCC-specific enhancers for neural crest induction, and SALL4A is essential for this process.

Hominoid-specific transposable elements rewired the expression of neural crest migration genes

The paper identifies hominoid-specific transposable elements that regulate neural crest migration genes, showing their role in craniofacial evolution.

CHD3 regulates BMP signalling response during cranial neural crest cell specification

This study shows CHD3 regulates BMP signaling during cranial neural crest cell specification by modulating chromatin accessibility and gene expression.

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial to mesenchymal transition in cranial neural crest lineage commitment

The paper shows ARID1A-haploinsufficiency impairs EMT in CNCC specification by disrupting ARID1A-BAF binding at EMT enhancers, which affects ZIC2 occupancy and leads to aberrant neuronal gene activation.

JUN upregulation drives aberrant transposable element mobilization, associated innate immune response, and impaired neurogenesis in Alzheimer disease

This study identifies JUN upregulation as a driver of transposable element mobilization, innate immune activation, and impaired neurogenesis in Alzheimer's disease.

Young transposable elements rewired gene regulatory networks in human and chimpanzee hippocampal intermediate progenitors

The paper identifies species-specific transposon-derived enhancers contributing to transcriptomic differences in human and chimpanzee hippocampal intermediate progenitors.

Genomic features underlie the co-option of SVA transposons as cis-regulatory elements in human pluripotent stem cells

The paper identifies genomic features that enable SVA transposons to function as cis-regulatory elements in human pluripotent stem cells, showing their impact on gene expression.

Positive selection and enhancer evolution shaped lifespan and body mass in great apes

The paper identifies genes and enhancers associated with lifespan and body mass in great apes through evolutionary and molecular analysis.

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

This study shows that failure to switch from ARID1A-BAF to ARID1B-BAF in patient-derived cells impairs neural crest formation in Coffin-Siris syndrome.

Genetic And Epigenetic Fine Mapping Of Complex Trait Associated Loci In The Human Liver

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

Transposable elements generate regulatory novelty in a tissue-specific fashion

The paper analyzes transposable elements (TEs) in human tissues to show their tissue-specific contribution to gene regulation through active and repressed chromatin associations.

Transposable element exaptation is the primary source of novelty in the primate gene regulatory landscape

The paper identifies transposable elements as the main source of novelty in primate gene regulation by analyzing conserved and newly evolved cis-regulatory elements across six primate species.