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Our latest work,
" Chromosome-specific centromeric patterns define the centeny map of the human genome "
now out in Science!
Human repetitive DNA at centromeres holds a fundamental paradox:
How can this fast-evolving genomic locus be maintained stable to perform its essential and conserved function in chromosome segregation?
Our research brings together two fields of interest and expertise:
Genome Stability & Human Repetitive DNA.
The Giunta Lab uses multidisciplinary approaches to study DNA Repeats Stability to investigate different aspects of human centromere biology spanning over three major areas: Genomics, DNA mutagenesis & repair, and Chromosomes behavior.
This work has far-reaching implications to medical interventions, diagnostics and human health.
New Work & Preprints:
New Work & Preprints:
Our article got almost 2000 downloads within the first week of publication, and media coverage from Italy to China, a tribute to our relentless work and dedication to discovery (see Il Sole 24, Il Corriere, Independente, ANSA, Phys, BEES, Sapienza, AIRC & AIRC Speciale, DBBCD, AGI, China ScienceNet, Faro Benessere, InfoSanità and others).
Stay tuned as we decipher these barcodes, define the consensus centeny map, and explore more hidden gems in the most fascinating regions of our genome. To join our effort, apply here!
Chromosome-specific centromeric patterns define the centeny map of the human genome
Our latest work now out in Science! Download the FULL ARTICLE here!
In short, we made a breathough discovery in the centromere and human genomics fields involving three key concepts:
(1) We found that there is a genetic architecture within centromere alpha-satellite repeats that is chromosome-specific and conserved in humans.
(2) We uncovered this architecture using an innovative computational approach - the GCP pipeline - that instead of focusing on sequences, looks at distances between motifs - similar to restriction digestion enzymes generating fragments of different sizes, to obtain numerical rendering of DNA
(3) The motif we chose, previously thought to be only within centromeres, we discovered it to be present along the arms of all human chromosomes with a conserved position and orientation, defining an in silico banding pattern we named the Human Centeny Map.
Similar to synteny using genes, centeny uses a single centromeric motif to compare across genomes, including centromeres, giving a different point of view especially to investigate long reads and new human assemblies.
The first part of the work with the release of the genome is finally out: https://www.nature.com/articles/s41467-025-62428-z
Featured in The Scientist: https://www.the-scientist.com/centromere-sequencing-fills-gaps-in-human-cell-line-genome-73454
Press Release here: https://www.eurekalert.org/news-releases/1098363
The complete human diploid reference genome of RPE-1 identifies the phased epigenetic landscapes from multi-omics data
Emilia Volpe, Luca Corda, Elena Di Tommaso, Franca Pelliccia, Riccardo Ottalevi, Danilo Licastro, Giulio Formenti, Mattia Capulli, Andrea Guarracino, Evelyne Tassone, Simona Giunta
Our first lab Preprint is here! How did a single lab (in Rome, Italy!) assemble a complete phased diploid human genome and a useful one?! This journey started in 2018, when Simona was told: if you want to study human centormeres, you need to know everything about them! What we were missing was a crucial piece of information - the linear sequence. When the Giunta Lab was established in 2021, we dvelved into this endovor and developed our own computational, sequencing and informatic infrastructure to assemble and validate T2T human genomes inlcuding the complete linear sequence of centormeres for all chromosomes. We are proud to give you a preview of the work we did with the RPE-1 genome. This is not just one of the first complete diploid human genomes in the world, but it is a functionally useful one. RPE1v1.0 isogenomic reference (the word we coined to refer to matching reference-sequencing data) changes epigenetic research with unprecedented level of precision for alignment of RPE1 reads and peaks calling. We are deeply grateful to Dante Labs (for PacBio) and Danilo Licastro at Area Science Park (for ONT), collaborators and everyone in the Giunta Lab that burnt the midnight oil time and time again to push this work through and deliver this great assembly. RPE1v1.0 is now available in early access. Please, send any equiry to amministrazioneGiuntaLab@gmail.com .
Now out:
CENP-A chromatin prevents replication stress at centromeres to avoid structural aneuploidy
Simona Giunta, Solene Hervé, Ryan R. White, Therese Wilhelm, Marie Dumont, Andrea Scelfo, Riccardo Gamba, Cheng Kit Wong, Giulia Rancati, Agata Smogorzewska, Hironori Funabiki, Daniele Fachinetti
Our new work in collaboration with the Fachinetti lab (Curie, France) has elucidated the mechanism for repeats fragility due to generation of mutagenic R-loops during centromere DNA replication.
This instability can be induced through epigenetic disruption of centromeres and rapidly gives raise to structural aneuploidy and complex chromosomal translocations similar to those found in many solid tumors.
In addition to being flagged by Promising Preprints, our research has been highlighted by The Company of Biologists Prelights. The work is not published in PNAS.
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