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      Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

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          Abstract

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          In domestic bovids, numerical autosome abnormalities have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. However, numerical abnormalities involving sex chromosomes and structural (balanced) chromosome anomalies have been more frequently detected because they are most often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape animal selection, with subsequent deleterious effects on fertility, especially in female carriers.

          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 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.

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          Most cited references252

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          Gene action in the X-chromosome of the mouse (Mus musculus L.).

          MARY LYON (1961)
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            Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

            A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development.
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              The pseudoautosomal region and sex chromosome aneuploidies in domestic species.

              The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content between other species. Given that PAR genes escape X inactivation, these differences might critically affect the genetic consequences, such as embryonic survival and postnatal phenotypes of sex chromosome aneuploidies. The aim of this review is to combine the available information about the organization of the PAR in domestic species with the cytogenetic data on sex chromosome aneuploidies. We show that viable XO individuals are relatively frequently found in species with small PARs, such as horses, humans and mice but are rare or absent in species in which the PAR is substantially larger, like in cattle/ruminants, dogs, pigs, and alpacas. No similar correlation can be detected between the PAR size and the X chromosome trisomy in different species. Recent evidence about the likely involvement of PAR genes in placenta formation, early embryonic development and genomic imprinting are presented. Copyright © 2011 S. Karger AG, Basel.
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                Author and article information

                Contributors
                Role: Academic Editor
                Journal
                Animals (Basel)
                Animals (Basel)
                animals
                Animals : an Open Access Journal from MDPI
                MDPI
                2076-2615
                12 March 2021
                March 2021
                : 11
                : 3
                : 802
                Affiliations
                [1 ]Institute for Animal Production System in Mediterranean Environment, National Research Council, 80055 Portici, Italy; alessandra.iannuzzi@ 123456cnr.it
                [2 ]Department of Agricultural and Environmental Sciences, University of Milan, 20133 Milan, Italy; pietro.parma@ 123456unimi.it
                Author notes
                [* ]Correspondence: leopiannuzzi949@ 123456gmail.com ; Tel.: +39-(06)-499327734
                Author information
                https://orcid.org/0000-0002-5445-883X
                Article
                animals-11-00802
                10.3390/ani11030802
                8001068
                33809390
                72cb5968-4661-4189-a90f-1546a749d625
                © 2021 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 15 February 2021
                : 08 March 2021
                Categories
                Review

                chromosome abnormality,cattle,river buffalo,sheep,goat,fertility

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