Chromosome variation in the embryos of domestic animals

Wa, King

doi:10.1159/000118743

Cited by 25 publications

(17 citation statements)

References 170 publications

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“…Mosaicism is a well documented phenomenon observed in human and animal embryos [Munne et al, 1994;King, 2008]. In the present study, we examined the embryo as a whole, hence the evaluation of mosaicism was not possible.…”

Section: Discussionmentioning

confidence: 99%

Investigation of Chromosome Aneuploidies in Early Porcine Embryos Using Comparative Genomic Hybridization

Horňák

Hulinska

Musilová

et al. 2009

Cytogenet Genome Res

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Although numerical chromosome errors are known to be prevalent in early human embryos and are likely to be a considerable factor influencing the mortality of early embryos and implantation failure, in domestic animals data about the frequency and nature of errors is limited. The objectives of this study were to investigate the whole chromosome set of in vivo obtained early pig embryos, applying methods of whole genome amplification and comparative genomic hybridization (CGH) and to contribute to the comprehensive understanding of the topic. The embryos were collected from gilts 72 h after insemination. Further, they were lysed and underwent whole genome amplification by multiple displacement amplification. In a subsequent CGH, amplified DNA was compared to control DNA using different fluorescent labeling and hybridization to male pig mitoses. 11 (14.3%) of the 77 pig embryos examined were observed to be aneuploid. We found chromosome errors comprising loss/gain of one or a few chromosomes (10.4%) but also extensive chromosome imbalances (3.9%). Chromosomes 8, 11, 12, 13, 17, and X were most frequently involved in aneuploidies, when compared to chromosomes 2, 9, and 18, which were rarely involved in chromosome errors.

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Section: Discussionmentioning

confidence: 99%

Investigation of Chromosome Aneuploidies in Early Porcine Embryos Using Comparative Genomic Hybridization

Horňák

Hulinska

Musilová

et al. 2009

Cytogenet Genome Res

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“…Chromosome instability is comparable in bovine and human cleavage-stage embryos following IVF We first assessed whether chromosome instability is comparable between bovine and human IVF cleavage-stage embryos (Iwasaki and Nakahara 1990;Viuff et al 2000;King 2008;Vanneste et al 2009). To determine the genomic constitution of embryos, we included only those embryos of which more than half of the blastomeres passed our QC filters (Methods).…”

Section: Single-cell Haplarithmisis On Bovine Cleavage-stage Embryosmentioning

confidence: 99%

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

et al. 2016

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Dramatic genome dynamics, such as chromosome instability, contribute to the remarkable genomic heterogeneity among the blastomeres comprising a single embryo during human preimplantation development. This heterogeneity, when compatible with life, manifests as constitutional mosaicism, chimerism, and mixoploidy in live-born individuals. Chimerism and mixoploidy are defined by the presence of cell lineages with different parental genomes or different ploidy states in a single individual, respectively. Our knowledge of their mechanistic origin results from indirect observations, often when the cell lineages have been subject to rigorous selective pressure during development. Here, we applied haplarithmisis to infer the haplotypes and the copy number of parental genomes in 116 single blastomeres comprising entire preimplantation bovine embryos (n = 23) following in vitro fertilization. We not only demonstrate that chromosome instability is conserved between bovine and human cleavage embryos, but we also discovered that zygotes can spontaneously segregate entire parental genomes into different cell lineages during the first post-zygotic cleavage division. Parental genome segregation was not exclusively triggered by abnormal fertilizations leading to triploid zygotes, but also normally fertilized zygotes can spontaneously segregate entire parental genomes into different cell lineages during cleavage of the zygote. We coin the term “heterogoneic division” to indicate the events leading to noncanonical zygotic cytokinesis, segregating the parental genomes into distinct cell lineages. Persistence of those cell lines during development is a likely cause of chimerism and mixoploidy in mammals.

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“…A variety of sex chromosome aneuploidies have been described in domestic species [Chowdhary, 1998;Chowdhary and Raudsepp, 2000;Ducos et al, 2007Ducos et al, , 2008King, 2008;Lear and Bailey, 2008;Villagomez and Pinton, 2008;Villagomez et al, 2009;Durkin et al, 2011;Raudsepp and Chowdhary, 2011]. The majority of those are in mosaic form, where chromosomally normal cells contribute to the phenotype together with cells containing an abnormal number of sex chromosomes, thus blurring the dosage effect of the genes that escape X inactivation.…”

Section: Sex Chromosome Aneuploidiesmentioning

confidence: 99%

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

Raudsepp

Das²,

Avila³

et al. 2011

Sex Dev

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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 The pseudoautosomal region (PAR) is a short region of sequence homology between the sex chromosomes and is involved in sex chromosome pairing, recombination and segregation in meiosis of the heterogametic sex. The region has been found in many plant and animal species, including mammals [Charlesworth et al., 2005;Ming and Moore, 2007].The mammalian PAR was discovered almost 80 years ago through studies of male meiosis in rats, where a synaptonemal complex between the X and Y was detected [Koller and Darlington, 1934]. Similar structures were soon found between the terminal ends of the X and Y chromosomes in several other eutherian species [Pathak and Elder, 1980], but not in marsupials [Sharp, 1982]. These observations have later been validated through detailed molecular genetic studies both in eutherian [Martin, 2006;Oliver-Bonet et al., 2006;Kauppi et al., 2011] and marsupial [Page et al., 2005[Page et al., , 2006 mammals.Whole or partial genome sequence data are available for almost all main domestic species -alpaca, cat, cat- Key WordsAneuploidy ؒ Domestic species ؒ Pseudoautosomal region ؒ Sex chromosomes ؒ X-monosomy ؒ X-trisomy AbstractThe 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

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Chromosome variation in the embryos of domestic animals

Cited by 25 publications

References 170 publications

Investigation of Chromosome Aneuploidies in Early Porcine Embryos Using Comparative Genomic Hybridization

Investigation of Chromosome Aneuploidies in Early Porcine Embryos Using Comparative Genomic Hybridization

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

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