Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts

Verp, Marion S.; Rosinsky, Barbara J.; Beau, Michelle M. Le; Martın, Alice O.; Kaplan, R.; Wallemark, Carl B.; Otaño, Lucas; Simpson, Joe Leigh

doi:10.1111/j.1399-0004.1988.tb03449.x

Cited by 18 publications

(9 citation statements)

References 28 publications

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“…Such a possible tissue-specific selection in favour of the preservation of parthenogenetic cells in the definitive haematopoietic tissues may also be relevant to the predominance of the upid(AC)mat cells in leukocytes. In addition, a reduced growth potential of 45,X cells14 may also have contributed to the skewed ratio of the two cell lineages.…”

Section: Discussionmentioning

confidence: 99%

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Yamazawa

Nakabayashi

Kagami

et al. 2010

Journal of Medical Genetics

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IntroductionWe report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX).Methods/ResultsMolecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X chromosomal loci revealed that the 46,XX cell lineage was accompanied by maternal uniparental isodisomy for all chromosomes (upid(AC)mat), whereas the 45,X cell lineage was associated with biparentally derived autosomes and a maternally derived X chromosome. The frequency of the 46,XX upid(AC)mat cells was calculated as 84% in leukocytes, 56% in salivary cells, and 18% in buccal epithelial cells.DiscussionThe results imply that a parthenogenetic activation took place around the time of fertilisation of a sperm missing a sex chromosome, resulting in the generation of the upid(AC)mat 46,XX cell lineage by endoreplication of one blastomere containing a female pronucleus and the 45,X cell lineage by union of male and female pronuclei. It is likely that the extent of overall (epi)genetic aberrations exceeded the threshold level for the development of SRS phenotype, but not for the occurrence of other imprinting disorders or recessive Mendelian disorders.

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Section: Discussionmentioning

confidence: 99%

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Yamazawa

Nakabayashi

Kagami

et al. 2010

Journal of Medical Genetics

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“…Another probable mechanism that might affect the elemental composition of enamel or dentin is that the genetic course of the TS syndrome affects the cell cycle. It has been found that the cell generation time for fibroblasts in some TS karyotypes is prolonged as a result of an extended S‐phase (49, 50). This is supported by the fact that the severity of mosaicism decreases with age (i.e.…”

Section: Discussionmentioning

confidence: 99%

Altered inorganic composition of dental enamel and dentin in primary teeth from girls with Turner syndrome

Rizell

Kjellberg

Dietz

et al. 2010

European J Oral Sciences

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In Turner syndrome (TS) one X-chromosome is missing or defective. The amelogenin gene, located on the X-chromosome, plays a key role during the formation of dental enamel. The aim of this study was to find support for the hypothesis that impaired expression of the X-chromosome influences mineral incorporation during amelogenesis and, indirectly, during dentinogenesis. Primary tooth enamel and dentin from girls with TS were analysed and compared with the enamel and dentin of primary teeth from healthy girls. Qualitative and quantitative changes in the composition of TS enamel were found, in addition to morphological differences. Higher frequencies of subsurface lesions and rod-free zones were seen in TS enamel using polarized light microscopy. Similarly, scanning electron microscopy showed that the enamel rods from TS teeth were of atypical sizes and directions. Using X-ray microanalysis, high levels of calcium and phosphorus, and low levels of carbon, were found in both TS enamel and dentin. Using microradiography, a lower degree of mineralization was found in TS enamel. Rule induction analysis was performed to identify characteristic element patterns for TS. Low values of carbon were the most critical attributes for the outcome TS. The conclusion was that impaired expression of the X-chromosome has an impact on dental hard tissue formation.

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“…A longer cell cycle time in 45,X cell lines than in 46,XX cells has been reported [2]. The doubling time [3] and cell generation time [4] parameters were shown to be prolonged in fibroblast lines with an absent or aberrant X chromosome compared to 46,XX cell lines. This difference is due to the prolongation of S phase in 45,X cells [4].…”

Section: Introductionmentioning

confidence: 99%

“…The doubling time [3] and cell generation time [4] parameters were shown to be prolonged in fibroblast lines with an absent or aberrant X chromosome compared to 46,XX cell lines. This difference is due to the prolongation of S phase in 45,X cells [4]. Consequently, a longer intermitotic period in 45,X cells would lead to a deceleration of the cell growth rate.…”

Section: Introductionmentioning

confidence: 99%

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

Álvarez-Nava¹

2021

Preprint

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Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birthweight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

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Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts

Cited by 18 publications

References 28 publications

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Altered inorganic composition of dental enamel and dentin in primary teeth from girls with Turner syndrome

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

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