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van Ekelenburg, Y. S.

Publications and source records attributed to van Ekelenburg, Y. S..

3 recordsLinked to original sources

A distal CTCF-binding site drives MYC expression plasticity in a negative feed-forward loop

Oncogene expression heterogeneity systemically diversifies cancer cell phenotypes, enabling selection and cancer evolution. Here we document that the level of MYC expression variation is coordinated by a negative feed-forward loop involving the non-coding CCAT1 eRNA and the MYC gating process. While CCAT1 eRNA indirectly antagonizes MYC gating by promoting MYC transcriptional initiation and elongation, the MYC protein promotes gated MYC expression in a feedback loop by inhibiting both MYC transcription and CCAT1 expression. This entire process is coordinated by a CTCF binding site positioned within CCAT1 at a distal, oncogenic super-enhancer, which functions as a master switch by coordinating both CCAT1 and gated MYC expression to diversify cells toward both low and high MYC levels, as determined by heterogeneity metrics. As hallmarks of this principle are frequent in breast cancer and colorectal tumors, the dynamics of this new principle may underlie transitions between therapy-resistant low-MYC, and proliferative high-MYC tumor cells. Highlights- Transcriptional rate regulates MYC gating frequency - CCAT1 expression indirectly inhibits MYC gating by promoting MYC transcription - High MYC protein levels promote gated expression by inhibiting both MYC transcription and CCAT1 expression - These features are controlled by a single CTCF binding in the distant super-enhancer to drive expression plasticity in colorectal cancer cells

cancer biology↗

Molecular characterization of capulet2 reveals the importance of ANAPHASE PROMOTING COMPLEX 6 maternal expression in endosperm development

Flowering plants are characterized by a double fertilization event, and the fertilized female gametes develop into the endosperm and embryo. Genomic imprinting promotes parental allele-specific gene expression in the endosperm by epigenetic modifications such as DNA methylation. Similarly, gametophyte maternal effects influence gene function in the female gametophyte that affects development of the endosperm and embryo post-fertilization. While most imprinted genes do not display a seed phenotype upon mutation, gametophyte maternal effect mutants are characterized by distorted seed development upon maternal transmission of the mutant allele. Here, we have investigated the gametophyte maternal effect mutant capulet2 (cap2). We have established CAP2 to be encoded by ANAPHASE PROMOTING COMPLEX 6 (APC6), a subunit of the anaphase promoting complex/cyclosome (APC/C). Investigation of further cap2/apc6 alleles revealed female gametophyte maternal effects both in mutant segregation and seed phenotype, and both cap2 and apc6 phenotypes were rescued by an APC6 transgene. Furthermore, we demonstrate that APC6 is a maternally expressed imprinted gene, in line with the observed female gametophyte maternal effect phenotype. To this end, we observed irregular nuclear division of the endosperm coenocyte in cap2/apc6 mutants, suggesting a role for the APC/C in early endosperm development. We further demonstrate that similar endosperm defects are also produced by mutation of APC1, another subunit of the APC/C. Similar to cap2/apc6, APC1 is imprinted and only expressed from the maternal allele, suggesting a maternal bias in the control of APC/C in the developing endosperm.

developmental biology↗

Spatial and Temporal Regulation of Parent-of-Origin Allelic Expression in the Endosperm

Genomic imprinting promotes differential expression of parental alleles in the endosperm of flowering plants, and is regulated by epigenetic modification such as DNA methylation and histone tail modifications in chromatin. After fertilization, the endosperm develops through a syncytial stage before it cellularizes and becomes a nutrient source for the growing embryo. Both in early and late endosperm development regional compartmentalization has been shown, and different transcriptional domains suggest divergent spatial and temporal regional functions. The analysis of the role of parent-of-origin allelic expression in the endosperm as a whole and also investigation of domain specific functions has been hampered by the availability of the tissue for high-throughput transcriptome analyses and contamination from surrounding tissue. Here we have used Fluorescence-Activated Nuclear Sorting (FANS) of nuclear targeted eGFP fluorescent genetic markers to capture parental specific allelic expression from different developmental stages and specific endosperm domains. This RNASeq approach allows us to successfully identify differential genomic imprinting with temporal and spatial resolution. In a systematic approach we report temporal regulation of imprinted genes in the endosperm as well as region specific imprinting in endosperm domains. Our data identifies loci that are spatially differentially imprinted in one domain of the endosperm while biparentally expressed in other domains. This suggests that regulation of genomic imprinting is dynamic and challenges the canonical mechanisms for genomic imprinting.

genetics↗