Tetraploidy: A report of three live‐born infants

Scarbrough, P R; Hersh, Joseph H.; Kukolich, Mary K.; Carroll, Andrew J.; Finley, Sara; Hochberger, Richard; Wilkerson, Shirley A.; Yen, Frank; Althaus, Becky W.

doi:10.1002/ajmg.1320190106

Cited by 46 publications

(25 citation statements)

References 14 publications

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“…Tetraploid newborns, both XXXX [female (107)] and XXYY (male (72)], have been reported and are thought to result from a failure of cell division in the zygote. Although polyploidy can disrupt normal sexual development and cause abnormal genital formation in humans (102), the fact that polyploid survival is much lower than that of trisomics involving the sex chromosomes (XYY, XXY, and XXX) and is associated with much more severe abnormalities and early mortality regardless of genotype suggest that a general disruption of development and not a disruption of sexual development, per se, explains the absence of polyploidy in adult humans. One factor contributing to the high rate of natural abortion of polyploid humans is abnormal placental growth (28,45), perhaps related to changes in cell size or to a disruption of the balance between maternally and paternally imprinted genes.…”

Section: Incidence In Animalsmentioning

confidence: 99%

Polyploid Incidence and Evolution

Otto

Whitton²

2000

Annu. Rev. Genet.

2,065

1,922

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Changes in ploidy occurred early in the diversification of some animal and plant lineages and represent an ongoing phenomenon in others. While the prevalence of polyploid lineages indicates that this phenomenon is a common and successful evolutionary transition, whether polyploidization itself has a significant effect on patterns and rates of diversification remains an open question. Here we review evidence for the creative role of polyploidy in evolution. We present new estimates for the incidence of polyploidy in ferns and flowering plants based on a simple model describing transitions between odd and even base chromosome numbers. These new estimates indicate that ploidy changes may represent from 2 to 4% of speciation events in flowering plants and 7% in ferns. Speciation via polyploidy is likely to be one of the more predominant modes of sympatric speciation in plants, owing to its potentially broad-scale effects on gene regulation and developmental processes, effects that can produce immediate shifts in morphology, breeding system, and ecological tolerances. Theoretical models support the potential for increased adaptability in polyploid lineages. The evidence suggests that polyploidization can produce shifts in genetic systems and phenotypes that have the potential to result in increased evolutionary diversification, yet conclusive evidence that polyploidy has changed rates and patterns of diversification remains elusive.

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Section: Incidence In Animalsmentioning

confidence: 99%

Polyploid Incidence and Evolution

Otto

Whitton²

2000

Annu. Rev. Genet.

2,065

1,922

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“…Only a handful of tetraploid human infants have ever been documented. 1 While rereplication is stringently prevented in most cells, polyploidy occurs physiologically in specialized cell types, such as myoblasts, megakaryocytes, trophoblasts and hepatocytes. 2 Most of these cases involve fusion or endoreduplication of terminally differentiated cells.…”

Section: Introductionmentioning

confidence: 99%

Tetraploidization increases sensitivity to Aurora B kinase inhibition

Marxer

Foucar²,

Man³

et al. 2012

Cell Cycle

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“…In fact, only a handful of tetraploid human infants have been documented [31]. On the cellular level, tetraploids are unstable because the extra centrosomes lead to multipolar mitosis, segregating the chromosomes unequally among the daughters.…”

Section: Discussionmentioning

confidence: 99%

The requirement of p53 for maintaining chromosomal stability during tetraploidization

Hau

Marxer

et al. 2010

Oncotarget

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AbstrAct:Tetraploidization is believed to promote genome instability and tumorigenesis. Whether tetraploids per se are intrinsically unstable and transforming remain incompletely understood. In this report, tetraploidization was induced with cell fusion using mouse fibroblasts. Due to the unequal segregation of chromosomes during multipolar mitosis, the majority of cells were eliminated by p53-dependent mechanisms after tetraploidization. The rare tetraploid fibroblasts that were able to undergo bipolar mitosis remained chromosomally stable and nontransformed over many generations. Suppression of p53 functions during tetraploidization, either by RNA interference or by using p53-deficient mouse fibroblasts, produced cells that were chromosomally unstable. They were fast growing and displayed anchorageindependent growth in soft agar. In contrast, impairment of p53 functions after tetraploids were established was ineffective in triggering chromosomal instability and transformation. Collectively, these results are consistent with a model that during early stages of tetraploidization, the lack of p53 promotes the survival of chromosomally unstable sub-tetraploids, leading to transformation. Once tetraploids are established, however, p53 is not essential for maintaining chromosome stability.

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Tetraploidy: A report of three live‐born infants

Cited by 46 publications

References 14 publications

Polyploid Incidence and Evolution

Polyploid Incidence and Evolution

Tetraploidization increases sensitivity to Aurora B kinase inhibition

The requirement of p53 for maintaining chromosomal stability during tetraploidization

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