New insights into triploidy and tetraploidy, from an analysis of model systems for these conditions

Kaufman, M. H.

doi:10.1093/oxfordjournals.humrep.a137263

Cited by 33 publications

(18 citation statements)

References 20 publications

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“…The defects in these embryos were most notable in the characteristic morphologies of the forebrain and aberrant or absent eyes, resembling holoprosencephaly. These defects could be results of abnormal migrations of prechordal mesoderm or neural crest (Kaufman, 1991b). This hypothesis was supported by the occasional appearance of forked or deviated neural tubes (Kaufman and McLaren, 1992).…”

Section: Developmental Potential Of Tetraploid Mouse Embryosmentioning

confidence: 94%

“…This hypothesis was supported by the occasional appearance of forked or deviated neural tubes (Kaufman and McLaren, 1992). Malformations of the vertebral axis and heart were also evident as well as occasional situs inversus and absence of the pituitary gland (Kaufman and Webb, 1990;Kaufman, 1991bKaufman, , 1992. Additionally, the combination of the use of CB and that the previously described full-term tetraploid embryos (Snow, 1973(Snow, , 1975 did not display these characteristic features in toto led to the suggestion, once again, that viable "tetraploids" may have been 4n:2n mosaics .…”

Section: Developmental Potential Of Tetraploid Mouse Embryosmentioning

confidence: 99%

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Tetraploid development in the mouse

Eakin

Behringer

2003

Developmental Dynamics

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Spontaneous duplication of the mammalian genome occurs in approximately 1% of fertilizations. Although one or more whole genome duplications are believed to have influenced vertebrate evolution, polyploidy of contemporary mammals is generally incompatible with normal development and function of all but a few tissues. The production of tetraploid (4n) embryos has become a common experimental manipulation in the mouse. Although development of tetraploid mice has generally not been observed beyond midgestation, tetraploid:diploid (4n:2n) chimeras are widely used as a method for rescuing extraembryonic defects. The tolerance of tissues to polyploidy appears to be dependent on genetic background. Indeed, the recent discovery of a naturally tetraploid rodent species suggests that, in rare genetic backgrounds, mammalian genome duplications may be compatible with the development of viable and fertile adults. Thus, the range of developmental potentials of tetraploid embryos remains in large part unexplored. Here, we review the biological consequences and experimental utility of tetraploid mammals, in particular the mouse. Developmental Dynamics 228:751-766, 2003.

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Section: Developmental Potential Of Tetraploid Mouse Embryosmentioning

confidence: 94%

Section: Developmental Potential Of Tetraploid Mouse Embryosmentioning

confidence: 99%

Tetraploid development in the mouse

Eakin

Behringer

2003

Developmental Dynamics

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“…Diandric triploid mouse embryos produced by nuclear manipulation are capable of surviving up to the forelimb bud stage and possess about 25 pairs of somites. They appear to be morphologically normal but are considerably smaller than fertilized embryos analyzed at similar stages of development [49,50]. The reduction in size of postimplantation triploid embryos compared with developmentally matched controls may result from their reduced cell number, possibly due to their slowed cleavage rate during the preimplantation period [51].…”

Section: Ploidy Of Ppn-derived Embryosmentioning

confidence: 99%

Pronuclear Location Before the First Cell Division Determines Ploidy of Polyspermic Pig Embryos1

Han

Wang

Abeydeera

et al. 1999

Biology of Reproduction

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Polyspermy occurs frequently in the fertilization of mammalian eggs, but little is known about whether polyspermic eggs have developmental ability in vitro or in vivo. We previously reported that poly-pronuclear (PPN; 3 or more pronuclei) pig eggs developed normally to the blastocyst stage despite having fewer inner cell mass cell numbers as compared to blastocysts derived from two-pronuclear (2PN) eggs. Here it is shown that most PPN pig eggs have abnormal cleavage patterns (having 3 or more cells) in the first cell division and retarded development of pronuclei prior to syngamy as compared to 2PN eggs. Most blastocysts (14 of 18) that developed from PPN eggs showed abnormal ploidy (were haploid, triploid, and tetraploid) whereas 20 of 22 blastocysts derived from 2PN embryos were diploid. The size and morphology of most Day 40 fetuses that developed from PPN eggs appeared to be normal. Of 8 Day 40 fetuses analyzed, 1 was triploid (XXY) and another was a mosaic with both diploid (XX) and tetraploid cells (frequency of less than 10%, XXXX), and the others were diploid. Anomalies of chromosomal composition were not detected in these fetuses. Five live piglets and one dead piglet were born from two recipients of PPN eggs. It is proposed that not all pronuclei of PPN pig eggs participate in syngamy, resulting in diploid cells in the conceptus. Our data suggest that there are two types of pronuclei location in polyspermic pig eggs and that the resulting ploidy is determined at the zygote stage before the first cell division according to pronuclear location.

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“…The genetic background differences in the developmental potential of tetraploid embryos have been suggested in some results (Kaufman & Webb 1990, Henery & Kaufman 1991, Kaufman 1991a, 1991b, Eakin & Behringer 2003, however, the issue has not been substantially explored in the currently available literature on ES mice.…”

Section: Introductionmentioning

confidence: 99%

The genetic heterozygosity and fitness of tetraploid embryos and embryonic stem cells are crucial parameters influencing survival of mice derived from embryonic stem cells by tetraploid embryo aggregation

Li¹,

Wei²,

Yong³

et al. 2005

Reproduction

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The aim of this paper was to determine whether the genetic background of tetraploid embryos contributed to the survival of mice derived from embryonic stem (ES) cells by tetraploid embryo complementation. Twenty-five newborns were produced by aggregation of hybrid ES cells and tetraploid embryos with different genetic backgrounds. These newborns were entirely derived from ES cells judged by microsatellite DNA (A specific sequence of DNA bases or nucleotides that contains mono, di, tri or tetra repeats) and coat colour phenotype and germline transmission. Fifteen survived to adulthood while seven died of respiratory failure. All newborns were derived from outbred or hybrid tetraploid aggregates and no newborns were from the inbreds. Our results demonstrate that the genetic heterozygosity, fitness of tetraploid embryos and fitness of ES cells are crucial parameters influencing survival of mice derived from ES cells by tetraploid embryo aggregation. In addition, this method represents a simple and efficient procedure for immediate generation of targeted mouse mutants from genetically modified ES cell clones, in contrast to the standard protocol, which involves the production of chimeras and several breeding steps.

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New insights into triploidy and tetraploidy, from an analysis of model systems for these conditions

Cited by 33 publications

References 20 publications

Tetraploid development in the mouse

Tetraploid development in the mouse

Pronuclear Location Before the First Cell Division Determines Ploidy of Polyspermic Pig Embryos1

The genetic heterozygosity and fitness of tetraploid embryos and embryonic stem cells are crucial parameters influencing survival of mice derived from embryonic stem cells by tetraploid embryo aggregation

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