Nucleus

The nuclear envelope separates, organizes, and protects the nuclear eukaryotic genome. It is constituted by the outer and the inner nuclear membrane, by the nuclear lamina, mainly formed by A-type and B-type lamins, and by proteins interacting with the membranes. During cell division, the nuclear envelope breaks down to allow separation of genomic material and then it is reformed on the surface of the bulk chromatin of newly separated cells. The nuclear envelope has different functions. It not only protects the genome from cytoplasmic nucleases, but also allows the transduction of mechanical stimuli from the external environment to the genome. Several lines of evidence demonstrate the existence of a link between proper nuclear structure and chromatin organization and genome maintenance. Nuclear envelope alterations, due, for example, to mutations of its constituents, are associated with genome instability and with disease including premature aging syndromes and cancer.

Telomeres are specialized genomic regions protecting the extremities of chromosomes. Thanks to their repetitive nature, to the secondary structure they acquire and to the recruitment of specialized proteins, they prevent the activation of a DNA damage response at chromosomal ends and control the proliferation ability of the cells. For these reasons, alterations in their metabolism are associated with pathological conditions linked both to a premature exhaustion of proliferative capabilities of stem cells or, vice versa, to the triggering of genomic instability processes as chromotripsis or kataegis linked to cancer transformation and progression. Moreover, they have a relevant role in organizing the architecture of the genome and a close association with the nuclear envelope during post-mitotic nuclear envelope reformation. The understanding of the impact of the nuclear envelope on genome organization and on telomeres is important in basic science, for interpreting the molecular mechanism of envelopathies and telomeropathies, and to identify new druggable disease pathways.

This Article Collection welcomes Original Research, Short Reports, and Review manuscripts dealing with the most updated research regarding the advancement in the description of nuclear structure and telomeres biology, the dissecting of the mechanism linking nuclear integrity and genome stability, telomeres maintenance pathway to genomic instability, as well as in the identification of putative treatment aimed to the restoration of nuclear integrity. Moreover, manuscripts dealing with new technological and conceptual approaches that will implement the research in the connection between nuclear structure and genome organization and maintenance are welcomed.

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Isabella Saggio identified the first human telomere-associated factor linked with the nuclear envelope. Telomere dysfunction causes genome instability and is a driver of cancer and premature aging (Burla et al Plos Genetics 2015; Cenci et al Plos Genetics 2015; Burla et al Open Biology 2016; La Torre et al Aging Cell 2018, Chen et al. Cell Reports 2019). More recently, she developed new research focusing on the implication of nuclear integrity in aging and cancer REFS and built on the link between telomeres and the nuclear envelope. The model systems used by her lab are primarily mammalian cells and mice. In addition, comparative studies were performed in D. melanogaster. Her research group has been recognized internationally and funded by national and international agencies.

Romina Burla is a researcher holding a permanent position at Institute of Molecular Biology and Pathology IBPM-CNR from 2020 and she is part of the research group of Professor Isabella Saggio at Biology and Biotechnology Department of Sapienza University. Her research is mainly focused on telomeres maintenance and on lamins interacting proteins. Recently, she has been working in nuclear integrity and genome stability field exploiting mainly in vitro systems and a microscopy-based approach.

Disclosure statement: Assoc. Prof. Saggio and Dr. Burla declare no conflict of interest regarding this work.

 

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The deadline for submitting manuscripts is March 31st, 2024. 

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