Cohesin and Beyond: Its Role in Health and Disease
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Proliferation and Division".
Deadline for manuscript submissions: closed (15 February 2022) | Viewed by 4662
Special Issue Editor
Special Issue Information
Dear Colleagues,
Cohesin is an evolutionarily conserved four-subunit complex that encircles DNA within its ring-shaped structure. In addition to this canonical role in chromosome segregation, cohesin is also needed for DNA repair, gene transcription regulation, and chromatin architecture. Germline mutations in cohesin and its regulators are responsible for a class of human diseases collectively called “transcriptomopathies” or “disorders of transcriptional regulation” (DTRs). Cornelia de Lange syndrome (CdLS) is the most prominent DTR and arises from heterozygous mutations, usually in the gene encoding cohesin regulator NIPBL, but sometimes in genes encoding the core mitotic-specific subunits of cohesin (RAD21, SMC3 and SMC1A) and the SMC3 deacetylase HDCA8. Somatic mutations in cohesin genes and regulators are instead associated with several types of cancer, including colorectal, glioblastoma, Ewing’s sarcoma, bladder, and myeloid neoplasms. Consequently, the aberrant expression, function, and regulation of cohesin-regulated processes are implicated in disease pathogenesis but are also being explored as a potential therapeutic strategy for curing diseases such as cancer. For this Special Issue, we welcome contributions including original research articles, reviews, and perspectives that will expand our current understanding of cohesin and associated factors in both physiological and pathological conditions, and its possible therapeutic exploitation.
Dr. Antonio Musio
Guest Editor
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Keywords
- cohesin, transcriptomopathies
- disorders of transcriptional regulation
- cancer
- chromosome segregation
- DNA repair
- gene transcription regulation
- chromatin architecture
