Special Issue "Cytogenetics of Domestic Animals: Clinical, Molecular and Evolutionary Aspects"

A special issue of Animals (ISSN 2076-2615). This special issue belongs to the section "Veterinary Clinical Studies".

Deadline for manuscript submissions: 31 October 2021.

Special Issue Editors

Dr. Leopoldo Iannuzzi
E-Mail Website
Guest Editor
National Research Council (CNR) of Italy, Institute of Animal Production System in Mediterranean Environment (ISPAAM), Piazzale Enrico Fermi 1, 80055 –Portici (NA), Italy
Interests: animal cytogenetics; gene mapping by FISH; standard karyotypes; genetic improvement of livestock
Dr. Pietro Parma
E-Mail Website
Guest Editor
Department of Agricultural and Environmental Sciences - Production, Landscape, Agroenergy, Milan University, Via Celoria, 2 - 20133 Milan, Italy
Interests: citogenetics; chromosome; sex determination; sry; sox; robertsonian traslocation; animal genetics

Special Issue Information

Dear Colleagues,

After the discovery of 1;29 Robertsonian translocation in the Swedish red cattle occurred more than 50 years ago and the demonstration of its deleterious effects on fertility, the cytogenetics applied to domestic animals was largely applied by several scientific laboratories in all the world. The main interest of the scientists has been focused to the following sectors: (a) clinical cytogenetics (study of the relationships between chromosome abnormalities and fertility), (b) evolutionary cytogenetics (study of chromosome banding homologies and gene order between related and unrelated species); (c) molecular cytogenetics (use of molecular markers –generally BAC-clones- and the FISH-technique (i) to extend the genetic physical maps,(ii) to better characterize chromosome abnormalities and (iii) to better study the chromosome evolution of species); (d) environmental cytogenetics (use of several chromosome or molecular test to establish possible damages to the DNA derived by exposure to alleged mutagens present in the environment).

In this Special issue, both paper-review, original contributions and short communications will be published to both sum up the knowledge and update the most important questions and problems related to the domestic animal cytogenetics, giving particular attention to the clinical cytogenetics which is particularly under the screen of both breeders and scientists for the animal breeding improvement.


Dr. Leopoldo Iannuzzi
Dr. Pietro Parma
Guest Editors

Manuscript Submission Information

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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. Animals is an international peer-reviewed open access monthly journal published by MDPI.

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Keywords

  • animal cytogenetics
  • chromosome abnormality
  • animal fertility
  • genetic improvement
  • molecular cytogenetics
  • chromosome evolution

Published Papers (5 papers)

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Research

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Article
Karyotype Evolution and Genomic Organization of Repetitive DNAs in the Saffron Finch, Sicalis flaveola (Passeriformes, Aves)
Animals 2021, 11(5), 1456; https://doi.org/10.3390/ani11051456 - 19 May 2021
Viewed by 955
Abstract
The Saffron finch (Sicalis flaveola), a semi-domestic species, is tolerant of human proximity and nesting in roof spaces. Considering the importance of cytogenomic approaches in revealing different aspects of genomic organization and evolution, we provide detailed cytogenetic data for S. [...] Read more.
The Saffron finch (Sicalis flaveola), a semi-domestic species, is tolerant of human proximity and nesting in roof spaces. Considering the importance of cytogenomic approaches in revealing different aspects of genomic organization and evolution, we provide detailed cytogenetic data for S. flaveola, including the standard Giemsa karyotype, C- and G-banding, repetitive DNA mapping, and bacterial artificial chromosome (BAC) FISH. We also compared our results with the sister groups, Passeriformes and Psittaciformes, bringing new insights into the chromosome and genome evolution of birds. The results revealed contrasting rates of intrachromosomal changes, highlighting the role of SSR (simple short repetition probes) accumulation in the karyotype reorganization. The SSRs showed scattered hybridization, but brighter signals were observed in the microchromosomes and the short arms of Z chromosome in S. flaveola. BACs probes showed conservation of ancestral syntenies of macrochromosomes (except GGA1), as well as the tested microchromosomes. The comparison of our results with previous studies indicates that the great biological diversity observed in Passeriformes was not likely accompanied by interchromosomal changes. In addition, although repetitive sequences often act as hotspots of genome rearrangements, Passeriformes species showed a higher number of signals when compared with the sister group Psittaciformes, indicating that these sequences were not involved in the extensive karyotype reorganization seen in the latter. Full article
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Review

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Review
Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective
Animals 2021, 11(5), 1257; https://doi.org/10.3390/ani11051257 - 27 Apr 2021
Cited by 1 | Viewed by 416
Abstract
The chromosomes of the domestic pig (Sus scrofa domesticus) are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers. In response to the remarkable prevalence of chromosome rearrangements in swine herds, [...] Read more.
The chromosomes of the domestic pig (Sus scrofa domesticus) are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers. In response to the remarkable prevalence of chromosome rearrangements in swine herds, clinical cytogenetics laboratories have been established in several countries in order to screen young boars for chromosome rearrangements prior to service. At present, clinical cytogenetics laboratories typically apply classical cytogenetics techniques such as giemsa-trypsin (GTG)-banding to produce high-quality karyotypes and reveal large-scale chromosome ectopic exchanges. Further refinements to clinical cytogenetics practices have led to the implementation of molecular cytogenetics techniques such as fluorescent in-situ hybridization (FISH), allowing for rearrangements to be visualized and breakpoints refined using fluorescently labelled painting probes. The next-generation of clinical cytogenetics include the implementation of DNA microarrays, and next-generation sequencing (NGS) technologies such as DNA sequencing to better explore tentative genome architecture changes. The implementation of these cytogenomics techniques allow the genomes of rearrangement carriers to be deciphered at the highest resolution, allowing rearrangements to be detected; breakpoints to be delineated; and, most importantly, potential gene implications of those chromosome rearrangements to be interrogated. Clinical cytogenetics has become an integral tool in the livestock industry, identifying rearrangements and allowing breeders to make informed breeding decisions. Full article
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Review
Clinical Cytogenetics of the Dog: A Review
Animals 2021, 11(4), 947; https://doi.org/10.3390/ani11040947 - 27 Mar 2021
Cited by 2 | Viewed by 1103
Abstract
The dog is an important companion animal and has been recognized as a model in biomedical research. Its karyotype is characterized by a high chromosome number (2n = 78) and by the presence of one-arm autosomes, which are mostly small in size. This [...] Read more.
The dog is an important companion animal and has been recognized as a model in biomedical research. Its karyotype is characterized by a high chromosome number (2n = 78) and by the presence of one-arm autosomes, which are mostly small in size. This makes the dog a difficult subject for cytogenetic studies. However, there are some chromosome abnormalities that can be easily identified, such as sex chromosome aneuploidies, XX/XY leukocyte chimerism, and centric fusions (Robertsonian translocations). Fluorescence in situ hybridization (FISH) with the use of whole-chromosome painting or locus-specific probes has improved our ability to identify and characterize chromosomal abnormalities, including reciprocal translocations. The evaluation of sex chromosome complement is an important diagnostic step in dogs with disorders of sex development (DSD). In such cases, FISH can detect the copy number variants (CNVs) associated with the DSD phenotype. Since cancers are frequently diagnosed in dogs, cytogenetic evaluation of tumors has also been undertaken and specific chromosome mutations for some cancers have been reported. However, the study of meiotic, gamete, and embryo chromosomes is not very advanced. Knowledge of canine genome organization and new molecular tools, such as aCGH (array comparative genome hybridization), SNP (single nucleotide polymorphism) microarray, and ddPCR (droplet digital PCR) allow the identification of chromosomal rearrangements. It is anticipated that the comprehensive use of chromosome banding, FISH, and molecular techniques will substantially improve the diagnosis of chromosome abnormalities in dogs. Full article
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Review
Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings
Animals 2021, 11(3), 831; https://doi.org/10.3390/ani11030831 - 16 Mar 2021
Cited by 2 | Viewed by 659
Abstract
Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with [...] Read more.
Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2–5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders. Full article
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Review
Chromosome Abnormalities and Fertility in Domestic Bovids: A Review
Animals 2021, 11(3), 802; https://doi.org/10.3390/ani11030802 - 12 Mar 2021
Cited by 2 | Viewed by 521
Abstract
After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to find relationships between chromosome abnormalities and their phenotypic effects on [...] Read more.
After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to find relationships between chromosome abnormalities and their phenotypic effects on animal production. Numerical abnormalities involving autosomes have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. In contrast, numerical sex chromosome abnormalities and structural chromosome anomalies have been more frequently detected in domestic bovids because they are often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape selection, with subsequent harmful effects on fertility, especially in female carriers. Chromosome abnormalities can also be easily spread through the offspring, especially when using artificial insemination. The advent of chromosome banding and FISH-mapping techniques with specific molecular markers (or chromosome-painting probes) has led to the development of powerful tools for cytogeneticists in their daily work. With these tools, they can identify the chromosomes involved in abnormalities, even when the banding pattern resolution is low (as has been the case in many published papers, especially in the past). Indeed, clinical cytogenetics remains an essential step in the genetic improvement of livestock. Full article
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Chromosome Abnormalities and Fertility in Domestic Bovids: A review
Authors: A. Iannuzzi; P. Parma; L. Iannuzzi
Affiliation: National Research Council (CNR) of Italy

Title: Clinical cytogenetics of the dog - A review
Authors: Szczerbal I.; Switonski M.
Affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poland

Title: Clinical Cytogenetics in the Horse - Past, Present, Future
Authors: Prof. Monika Bugno; Prof. Terje Raudsepp
Affiliation: University of Agriculture : Krakow, PL and Texas A&M University, USA

Title: Classical, Molecular and Genomic Cytogenetics of the Pig
Authors: A.W. King; B. Donaldson; D. Villagomez
Affiliation: University of Guelph, Canada

Title: Anchoring the CerEla1.0 genome assembly to red deer (Cervus elaphus) and cattle (Bos taurus) chromosomes and specification of evolutionary chromosome rearrangements in Cervidae
Authors: J. Rubes
Affiliation: Středoevropský technologický institutdisabled, Brno, Czech Republic

Title: Karyotype evolution and genomic organization of repetitive DNAs in Sicalis flaveola (Passeriformes, Aves)
Authors: Darren Griffin
Affiliation: University of Kent, Canterbury, United Kingdom

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