Chimera and other fertilization errors

Malan, Valérie; Vekemans, Michel; Turleau, C

doi:10.1111/j.1399-0004.2006.00689.x

Cited by 89 publications

(91 citation statements)

References 61 publications

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“…In this study, we uncovered distinct blastomere lineages spontaneously emerging from (ab)normally fertilized zygotes (androgenetic, gynogenetic, and biparental) and propose that perturbations of fundamental zygotic programs-i.e., concurrent operation or residual meiotic spindles, loss of the gonomeric spindle pole integrity, endomitotic cycles-provide a novel conceptual framework for the origin of both parthenogenetic and androgenetic chimeras as well as mixoploid entities (Malan et al 2006). The discovery of heterogoneic segregation adds to the remarkable genome plasticity observed during mammalian cleavage-stage development.…”

Section: Wwwgenomeorgmentioning

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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Section: Wwwgenomeorgmentioning

confidence: 99%

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

et al. 2016

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“…While the presence of chimerism or mosaicism in XX/XY chimera (2,3) easily explains the coexistence of both gonads, the origin of an ovotestis is more difficult to explain in patients with a normal karyotype. Molecular analyses of peripheral lymphocytes have revealed that in w10% of the cases with 46,XX ovotesticular DSD, a translocated SRY is cause for the phenotype (4).…”

Section: Introductionmentioning

confidence: 99%

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

Ledig¹,

Hiort²,

Wünsch³

et al. 2012

European Journal of Endocrinology

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Objective: Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In a subset of patients, ovotesticular DSD is caused by 46,XX/46,XY chimerism or mosaicism. To date, only a few monogenetic causes are known to be associated with XX and XY ovotesticular DSD. Design and methods: Clinical, hormonal, and histopathological data, and results of high-resolution array-comparative genomic hybridization (CGH) were obtained from a female patient with 46,XY ovotesticular DSD with testicular tissue on one side and an ovary harboring germ cells on the other. Results obtained by array-CGH were confirmed by RT-quantitative PCR. Results: We detected a deletion of w35 kb affecting exons 3 and 4 of the DMRT1 gene in a female patient with 46,XY ovotesticular DSD. To the best of our knowledge, this is the smallest deletion affecting DMRT1 presented to this point in time. Conclusions: We suggest that haploinsufficiency of DMRT1 is sufficient for both XY gonadal dysgenesis and XY ovotesticular DSD. Furthermore, array-CGH is a very useful tool in the molecular diagnosis of DSD.

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“…The prevalence of this phenomenon in humans is unknown, and published reports in apparently healthy individuals without sexual ambiguity are exceptional. 5 The immune chimerism in this boy challenges our conception of antigen presentation and tolerance, and his long-term prognosis seems unpredictable and will need cautious follow-up at puberty. …”

Section: Commentmentioning

confidence: 99%

“…Very exceptionally, chimerism can occur spontaneously, and it is then the result from the amalgamation of 2 different zygotes in a single embryo, which leads to tetragametic chimerism. 5 Most reported cases of tetragametic chimerism occurring in individuals without sexual ambiguity were detected when blood group screening revealed an unusual phenotype. 6,7 We report the case of a young patient in whom skin pigmentary abnormalities revealed chimerism.…”

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confidence: 99%