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PXD021616

PXD021616 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleMLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki Syndrome
DescriptionThe genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depends on multivalent interactions occurring among transcription factors, cofactors and basal transcriptional machinery. However how chromatin players contribute to the assembly of transcriptional condensates has not been addressed. By interrogating the effect of KMT2D haploinsufficiency in Kabuki Syndrome, we found that MLL4 contributes in the assembly of transcriptional condensates through liquid-liquid phase separation. MLL4 loss-of-function impaired Polycomb-dependent chromatin compartmentalization, altering nuclear architecture. By releasing the nuclear mechanical stress through the inhibition of the mechano-sensor ATR, we re-established the mechano-signaling of mesenchymal stem cells and their commitment towards chondrocytes both in vitro and in vivo. This study supports the notion that in Kabuki Syndrome the haploinsufficiency of MLL4 causes an altered functional partitioning of chromatin, which determines the architecture and mechanical properties of the nucleus.
HostingRepositoryPRIDE
AnnounceDate2020-09-22
AnnouncementXMLSubmission_2020-09-22_04:56:06.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterRomina Belli
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListmonomethylated residue; trimethylated residue; acetylated residue; dimethylated residue
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02020-09-22 04:34:58ID requested
12020-09-22 04:56:06announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: Mass spectrometry, PTM, Epiprofile, Histone, Kabuki Syndrome
Contact List
Zippo Alessio
contact affiliationLaboratory of Chromatin Biology & Epigenetics, Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy
contact emailalessio.zippo@unitn.it
lab head
Romina Belli
contact affiliationUniversity of Trento
contact emailromina.belli@unitn.it
dataset submitter
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Dataset FTP location
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PRIDE project URI
Repository Record List
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