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Genes
Special Issues
Chromosomal Rearrangements in the Light of Evolutionary Genomics
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Chromosomal Rearrangements in the Light of Evolutionary Genomics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: closed (25 December 2023) | Viewed by 674

Special Issue Editor

Dr. Maria Sharakhova

E-Mail Website
Guest Editor
Fralin Life Science Institute, Virginia Tech, Blacksburg, VA, USA
Interests: comparative genomics; cytogenetics; chromosome evolution; population genomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Chromosomal rearrangements are important players in evolution driving genetic differentiation in living organisms that may directly lead to speciation or to ecological adaptations through balanced polymorphism. Chromosomal inversions flip a piece of the chromosome by 180 degrees and produce a reverse order of the genetic material. As a result, a specific set of genes located in this part of the genome becomes protected from recombination during meiosis in heterozygotes. Combined, these sets of genes can have dramatic phenotypic effects on their carriers. Following pioneering studies conducted on polytene chromosomes in Drosophila started by T. Dobzhansky in the 1930s, chromosomal inversions were utilized to study evolutionary genetics in other Dipteran species with well-developed polytene chromosomes. The availability of the chromosome-scale genome assemblies for different organisms led to the discovery of chromosomal rearrangements in other organisms including plants, insects, mammals, and humans. Genome-based technologies offer new opportunities for the detection of chromosomal rearrangements and a better understanding of their role in ecological adaptations, genetic divergence, and evolution.

In this Special Issue, we invite submissions of original research and review articles with a particular focus on chromosomal rearrangements and their role in genetic variations, ecological adaptions, population structure, and speciation. Articles on the development of new technologies focusing on the discovery of chromosomal rearrangement and comprehensive genome analyses of their structure are also welcome.

Dr. Maria Sharakhova
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. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • chromosome rearrangements
  • population genomics
  • genome evolution
  • chromosome
  • chromatin

Published Papers (1 paper)

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Research

14 pages, 5622 KiB  
Article
Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect
by Concetta Federico, Desiree Brancato, Francesca Bruno, Daiana Galvano, Mariella Caruso and Salvatore Saccone
Genes 2024, 15(6), 722; https://doi.org/10.3390/genes15060722 - 1 Jun 2024
Viewed by 474
Abstract
Chromosomal translocations can result in phenotypic effects of varying severity, depending on the position of the breakpoints and the rearrangement of genes within the interphase nucleus of the translocated chromosome regions. Balanced translocations are often asymptomatic phenotypically and are typically detected due to [...] Read more.
Chromosomal translocations can result in phenotypic effects of varying severity, depending on the position of the breakpoints and the rearrangement of genes within the interphase nucleus of the translocated chromosome regions. Balanced translocations are often asymptomatic phenotypically and are typically detected due to a decrease in fertility resulting from issues during meiosis. Robertsonian translocations are among the most common chromosomal abnormalities, often asymptomatic, and can persist in the population as a normal polymorphism. We serendipitously discovered a Robertsonian translocation between chromosome 21 and chromosome 22, which is inherited across three generations without any phenotypic effect, notably only in females. In situ hybridization with alpha-satellite DNAs revealed the presence of both centromeric sequences in the translocated chromosome. The reciprocal translocation resulted in a partial deletion of the short arm of both chromosomes 21, and 22, with the ribosomal RNA genes remaining present in the middle part of the new metacentric chromosome. The rearrangement did not cause alterations to the long arm. The spread of an asymptomatic heterozygous chromosomal polymorphism in a population can lead to mating between heterozygous individuals, potentially resulting in offspring with a homozygous chromosomal configuration for the anomaly they carry. This new karyotype may not produce phenotypic effects in the individual who presents it. The frequency of karyotypes with chromosomal rearrangements in asymptomatic heterozygous form in human populations is likely underestimated, and molecular karyotype by array Comparative Genomic Hybridization (array-CGH) analysis does not allow for the identification of this type of chromosomal anomaly, making classical cytogenetic analysis the preferred method for obtaining clear results on a karyotype carrying a balanced rearrangement. Full article
(This article belongs to the Special Issue Chromosomal Rearrangements in the Light of Evolutionary Genomics)
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