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Role of Chromosomal Cohesion and Separation in Health and Disease
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Role of Chromosomal Cohesion and Separation in Health and Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Role of Xenobiotics".

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 14311

Special Issue Editor

Prof. Dr. Debananda Pati

E-Mail Website
Guest Editor
Department of Pediatric Hematology/Oncology, Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA
Interests: cohesin and separase biology; cohesin and cancer; developmental therapeutics; animal models; breast cancer; leukemia and ewing sarcoma

Special Issue Information

Dear Colleagues,

Since the identification of chromosomal cohesin complex proteins in 1997, over two decades ago, this field has exploded, with over 5000 publications. However, recent findings from several large genomics studies of widespread somatic mutations of cohesin and cohesion-associated genes with potential functional links to carcinogenesis in a wide range of human cancers, and germ-line mutations of cohesin components exhibiting an array of developmental phenotypes collectively called cohesinopathy have brought an intense focus to this field. As this is a very fast-moving field with a tremendous interest in cohesin proteins in a wide range of human diseases, this Special Issue on the “Role of Chromosomal cohesion and Separation in human Health and Disease” will cover a selection of recent research topics encompassing cohesinopathy, the physiological role of cohesin in development and malignancy, cohesin as novel therapeutic targets, and emerging strategies to rectify or eliminate cells with dysfunctional cohesin complexes.

Prof. Dr. Debananda Pati
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Cohesin and Separase
  • Chromosomal cohesion and separation
  • Cohesin mutation
  • Cancer
  • Cohesinopathies
  • Targeted therapy
  • Synthetic lethality
  • Epigenetic mechanisms
  • Stem cells
  • Hematopoiesis

Published Papers (3 papers)

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Review

23 pages, 1207 KiB  
Review
Cohesin Mutations in Cancer: Emerging Therapeutic Targets
by Jisha Antony, Chue Vin Chin and Julia A. Horsfield
Int. J. Mol. Sci. 2021, 22(13), 6788; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22136788 - 24 Jun 2021
Cited by 20 | Viewed by 6383
Abstract
The cohesin complex is crucial for mediating sister chromatid cohesion and for hierarchal three-dimensional organization of the genome. Mutations in cohesin genes are present in a range of cancers. Extensive research over the last few years has shown that cohesin mutations are key [...] Read more.
The cohesin complex is crucial for mediating sister chromatid cohesion and for hierarchal three-dimensional organization of the genome. Mutations in cohesin genes are present in a range of cancers. Extensive research over the last few years has shown that cohesin mutations are key events that contribute to neoplastic transformation. Cohesin is involved in a range of cellular processes; therefore, the impact of cohesin mutations in cancer is complex and can be cell context dependent. Candidate targets with therapeutic potential in cohesin mutant cells are emerging from functional studies. Here, we review emerging targets and pharmacological agents that have therapeutic potential in cohesin mutant cells. Full article
(This article belongs to the Special Issue Role of Chromosomal Cohesion and Separation in Health and Disease)
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21 pages, 2260 KiB  
Review
PDS5A and PDS5B in Cohesin Function and Human Disease
by Nenggang Zhang, Luiza E. Coutinho and Debananda Pati
Int. J. Mol. Sci. 2021, 22(11), 5868; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22115868 - 30 May 2021
Cited by 18 | Viewed by 4385
Abstract
Precocious dissociation of sisters 5 (PDS5) is an associate protein of cohesin that is conserved from yeast to humans. It acts as a regulator of the cohesin complex and plays important roles in various cellular processes, such as sister chromatid cohesion, DNA damage [...] Read more.
Precocious dissociation of sisters 5 (PDS5) is an associate protein of cohesin that is conserved from yeast to humans. It acts as a regulator of the cohesin complex and plays important roles in various cellular processes, such as sister chromatid cohesion, DNA damage repair, gene transcription, and DNA replication. Vertebrates have two paralogs of PDS5, PDS5A and PDS5B, which have redundant and unique roles in regulating cohesin functions. Herein, we discuss the molecular characteristics and functions of PDS5, as well as the effects of its mutations in the development of diseases and their relevance for novel therapeutic strategies. Full article
(This article belongs to the Special Issue Role of Chromosomal Cohesion and Separation in Health and Disease)
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18 pages, 1759 KiB  
Review
Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology
by Diana Santos, Mohammad Mahtab, Ana Boavida and Francesca M. Pisani
Int. J. Mol. Sci. 2021, 22(5), 2308; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22052308 - 25 Feb 2021
Cited by 4 | Viewed by 3059
Abstract
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1, orthologous to [...] Read more.
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11/ChlR1, orthologous to the yeast chromosome loss protein 1 (Chl1). WABS is classified in the group of “cohesinopathies”, rare hereditary diseases that are caused by mutations in genes coding for subunits of the cohesin complex or protein factors having regulatory roles in the sister chromatid cohesion process. In fact, among the cohesion regulators, an important player is DDX11, which is believed to be important for the functional coupling of DNA synthesis and cohesion establishment at the replication forks. Here, we will review what is known about the molecular and cellular functions of human DDX11 and its role in WABS etiopathogenesis, even in light of recent findings on the role of cohesin and its regulator network in promoting chromatin loop formation and regulating chromatin spatial organization. Full article
(This article belongs to the Special Issue Role of Chromosomal Cohesion and Separation in Health and Disease)
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