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Cytogenomics
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Cytogenomics

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

Deadline for manuscript submissions: closed (10 January 2022) | Viewed by 14699

Special Issue Editor

Prof. Dr. Ivan Y. Iourov

E-Mail Website
Guest Editor
1. Yurov’s Laboratory of Molecular Genetics and Cytogenomics of the Brain Mental Health Research Center, 117152 Moscow, Russia
2. Laboratory of Molecular Cytogenetics of Neuropsychiatric Diseases, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, 125412 Moscow, Russia
Interests: medical genomics; genome instability; chromosomes; cytogenetics; bioinformatics; brain; neurodegenerative diseases; psychiatric diseases; intellectual disability
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Chromosome biology and medical (cyto)genetics have benefited a lot from the introduction of high-resolution analysis of the human genome. As a result, cytogenomics emerged about a dozen years ago. Currently, cytogenomic research is an important part of genomics and human genetics and is required for the accumulation of knowledge about evolution, structure and behavior of metaphase and interphase chromosomes. Moreover, cytogenomics provides key insights into the mechanisms and spectrum of chromosomal variations in health and disease. In practical medicine, cytogenomic analysis has become a wide area of diagnostic research targeting microscopic and submicroscopic genome variations (chromosome abnormalities), which are the most frequent inherited and acquired genetic causes of human morbidity and mortality. It is thus hard to overestimate the relevance of cytogenomics to biomedicine.

This special issue is a venue for a broad spectrum of articles dedicated to the field of cytogenomics, as a whole. Briefly, structural, behavioral, evolutionary and functional aspects of chromosomes are to be covered. We believe that a collection of papers encompassing different cytogenomic dimensions represents a valuable contribution to bimolecular science.

Prof. Dr. Ivan Y. Iourov
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

  • cytogenomics
  • chromosome
  • structural genome variations
  • copy number variations
  • chromosome instability
  • chromosome abnormalities
  • somatic mosaicism
  • aneuploidy
  • molecular cytogenetics
  • systems biology/genomics

Published Papers (3 papers)

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Research

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17 pages, 1621 KiB  
Article
B Chromosomes in Free-Living Flatworms of the Genus Macrostomum (Platyhelminthes, Macrostomorpha)
by Kira S. Zadesenets and Nikolay B. Rubtsov
Int. J. Mol. Sci. 2021, 22(24), 13617; https://doi.org/10.3390/ijms222413617 - 19 Dec 2021
Cited by 2 | Viewed by 2463
Abstract
B chromosomes (Bs) or supernumerary chromosomes are extra chromosomes in the species karyotype that can vary in its copy number. Bs are widespread in eukaryotes. Usually, the Bs of specimens collected from natural populations are the object of the B chromosome studies. We [...] Read more.
B chromosomes (Bs) or supernumerary chromosomes are extra chromosomes in the species karyotype that can vary in its copy number. Bs are widespread in eukaryotes. Usually, the Bs of specimens collected from natural populations are the object of the B chromosome studies. We applied another approach analyzing the Bs in animals maintained under the laboratory conditions as lines and cultures. In this study, three species of the Macrostomum genus that underwent a recent whole-genome duplication (WGD) were involved. In laboratory lines of M. lignano and M. janickei, the frequency of Bs was less than 1%, while in the laboratory culture of M. mirumnovem, it was nearer 30%. Their number in specimens of the culture varied from 1 to 14. Mosaicism on Bs was discovered in parts of these animals. We analyzed the distribution of Bs among the worms of the laboratory cultures during long-term cultivation, the transmission rates of Bs in the progeny obtained from crosses of worms with different numbers of Bs, and from self-fertilized isolated worms. The DNA content of the Bs in M. mirumnovem was analyzed with the chromosomal in situ suppression (CISS) hybridization of microdissected DNA probes derived from A chromosomes (As). Bs mainly consisted of repetitive DNA. The cytogenetic analysis also revealed the divergence and high variation in large metacentric chromosomes (LMs) containing numerous regions enriched for repeats. The possible mechanisms of the appearance and evolution of Bs and LMs in species of the Macrostomum genus were also discussed. Full article
(This article belongs to the Special Issue Cytogenomics)
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17 pages, 4704 KiB  
Article
Identification of Intercellular Crosstalk between Decidual Cells and Niche Cells in Mice
by Jia-Peng He, Qing Tian, Qiu-Yang Zhu and Ji-Long Liu
Int. J. Mol. Sci. 2021, 22(14), 7696; https://doi.org/10.3390/ijms22147696 - 19 Jul 2021
Cited by 8 | Viewed by 3172
Abstract
Decidualization is a crucial step for human reproduction, which is a prerequisite for embryo implantation, placentation and pregnancy maintenance. Despite rapid advances over recent years, the molecular mechanism underlying decidualization remains poorly understood. Here, we used the mouse as an animal model and [...] Read more.
Decidualization is a crucial step for human reproduction, which is a prerequisite for embryo implantation, placentation and pregnancy maintenance. Despite rapid advances over recent years, the molecular mechanism underlying decidualization remains poorly understood. Here, we used the mouse as an animal model and generated a single-cell transcriptomic atlas of a mouse uterus during decidualization. By analyzing the undecidualized inter-implantation site of the uterus as a control, we were able to identify global gene expression changes associated with decidualization in each cell type. Additionally, we identified intercellular crosstalk between decidual cells and niche cells, including immune cells, endothelial cells and trophoblast cells. Our data provide a valuable resource for deciphering the molecular mechanism underlying decidualization. Full article
(This article belongs to the Special Issue Cytogenomics)
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Review

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26 pages, 3789 KiB  
Review
Nuclear Envelope Integrity in Health and Disease: Consequences on Genome Instability and Inflammation
by Benoit R. Gauthier and Valentine Comaills
Int. J. Mol. Sci. 2021, 22(14), 7281; https://doi.org/10.3390/ijms22147281 - 06 Jul 2021
Cited by 19 | Viewed by 7852
Abstract
The dynamic nature of the nuclear envelope (NE) is often underestimated. The NE protects, regulates, and organizes the eukaryote genome and adapts to epigenetic changes and to its environment. The NE morphology is characterized by a wide range of diversity and abnormality such [...] Read more.
The dynamic nature of the nuclear envelope (NE) is often underestimated. The NE protects, regulates, and organizes the eukaryote genome and adapts to epigenetic changes and to its environment. The NE morphology is characterized by a wide range of diversity and abnormality such as invagination and blebbing, and it is a diagnostic factor for pathologies such as cancer. Recently, the micronuclei, a small nucleus that contains a full chromosome or a fragment thereof, has gained much attention. The NE of micronuclei is prone to collapse, leading to DNA release into the cytoplasm with consequences ranging from the activation of the cGAS/STING pathway, an innate immune response, to the creation of chromosomal instability. The discovery of those mechanisms has revolutionized the understanding of some inflammation-related diseases and the origin of complex chromosomal rearrangements, as observed during the initiation of tumorigenesis. Herein, we will highlight the complexity of the NE biology and discuss the clinical symptoms observed in NE-related diseases. The interplay between innate immunity, genomic instability, and nuclear envelope leakage could be a major focus in future years to explain a wide range of diseases and could lead to new classes of therapeutics. Full article
(This article belongs to the Special Issue Cytogenomics)
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