Premature chromatid separation (PCS) vs. premature centromere division (PCD)

Kajii, Tadashi; Ikeuchi, Tatsuro

doi:10.1002/ajmg.a.20612

Cited by 15 publications

(14 citation statements)

References 11 publications

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“…PSCS is a phenomenon whereby separate and splayed chromatids, with discernible centromeres, are seen and involves all or most chromosomes of a metaphase [Kajii and Asamoto, 2004]. It involves not only the centromere but also the entire sister chromatids of almost all mitotic chromosomes in a given metaphase [Kajii and Ikeuchi, 2004]. PSCS has been described in a number of conditions including Roberts syndrome [German, 1979], Fanconi Anemia, Ataxia Teleangiectasia [Mehes and Buhler, 1995], Alzheimer disease [Moorhead and Heyman, 1983;Spremo-Potparevic et al, 2004], Tuberous Sclerosis [Scappaticci et al, 1988], and Variegated Aneuploidy [Kajii et al, 1998;Plaja et al, 2001Plaja et al, , 2003.…”

Section: Discussionmentioning

confidence: 99%

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Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

et al. 2005

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The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic facial features, hirsutism, abnormalities of the upper extremities ranging from subtle changes in the phalanges and metacarpal bones to oligodactyly and phocomelia, gastroesophageal dysfunction, growth retardation, and neurodevelopmental delay. Prevalence is estimated to be as high as 1 in 10,000. Recently, mutations in NIPBL were identified in sporadic and familial CdLS cases. To date, mutations in this gene have been identified in over 45% of individuals with CdLS. NIPBL is the human homolog of the Drosophila Nipped-B gene. Although its function in mammalian systems has not yet been elucidated, sequence homologs of Nipped-B in yeast (Scc2 and Mis4) are required for sister chromatid cohesion during mitosis, and a similar role was recently demonstrated for Nipped-B in Drosophila. In order to evaluate NIPBL role in sister chromatid cohesion in humans, metaphase spreads on 90 probands (40 NIPBL mutation positive and 50 NIPBL mutation negative) with CdLS were evaluated for evidence of precocious sister chromatid separation (PSCS). We screened 50 metaphases from each proband and found evidence of PSCS in 41% (compared to 9% in control samples). These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast.

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Section: Discussionmentioning

confidence: 99%

“…PSCS has been seen in spontaneous abortions [Keser et al, 1996] and also in normal individuals after exposure to genotoxic chemicals [Major et al, 1999]. PSCS has also been reported to be present in a low percentage (less than 2%-3%) of normal individuals [Dominguez and Rivera, 1992;Kajii and Ikeuchi, 2004].…”

Section: Discussionmentioning

confidence: 99%

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

et al. 2005

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“…In approximately two-third of the cases, MVA is associated to premature chromatid separation (PCS; OMIM 176430) (Callier et al 2005;Jacquemont et al 2002) suggesting that two types of MVA may be distinguished, depending on presence or absence of PCS. While the transmission of MVA has been considered to be autosomal recessive, PCS is believed to be an autosomal dominant trait that can be found in asymptomatic parents of patients with MVA (Kajii and Ikeuchi 2004).…”

Section: Introductionmentioning

confidence: 99%

Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy

et al. 2008

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Biallelic and heterozygous mutations of the BUB1B gene have been reported in mosaic variegated aneuploidy (MVA), a rare disorder characterized by constitutional mosaic aneuploidies associated to severe intrauterine growth retardation, microcephaly and, in most cases, to premature chromatid separation (PCS), highlighting the key role of human BUBR1 in chromosome segregation. To study the consequences of gradual reduction of the BUBR1 protein levels, inhibition of BUB1B expression in model cells was induced using short hairpin RNAs (shRNAs). We obtained stable shRNA-transduced HeLa cells displaying a gradient of residual BUBR1 protein (8.5, 10, 14, 58, and 77%), mimicking the situation of patients' cells harboring one or two BUB1B mutations. Induction of PCS was detected in all transduced cells and its level was correlated to the decrease of BUBR1. Aneuploidy was clearly detected in cells with residual BUBR1 below 50%. Our data demonstrate that the function of the human BUBR1 protein in the spindle checkpoint is remarkably dosage-dependent and that the biological consequences of BUB1B expression reduction on premature chromatid separation and aneuploidy depend on the residual amount of BUBR1. This provides a biological explanation for the mode of inheritance of PCS, which is dominant, and of MVA, which can be recessive in some families and result from the combination of a null allele associated to a common hypomorphic allele in others.

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“…First described by Fitzgerald in 1975, since then PCD was linked with a presence of aneuploidy due to improper chromosome disjunction (non‐disjunction) during mitotic or meiotic anaphase. To distinguish from commonly confused, total premature chromatid separation (PCS, OMIM 176430), rather a result of c‐anaphase, Kajii and Ikeuchi () proposed distinctive features describing PCD: (a) X chromosome involvement, (b) separated and rod‐shaped chromatids, (c) non‐discernible centromeres that are lack of waist‐like narrowing of sister chromatids, (d) age‐dependency of the PCD, (e) unclear inheritance pattern and (f) presence of aneuploidy. Premature centromere division is predominantly linked with inactivated X chromosome (Abruzzo, Mayer, & Jacobs, ).…”

Section: Introductionmentioning

confidence: 99%

Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties

Witarski

Kij

Nowak

et al. 2019

Reprod Domestic Animals

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A hucul mare with reproductive abnormalities was examined during karyotype analysis. The karyotype was analysed based on evaluation of 860 metaphase plates in chromosome preparations. The use of fluorescence in situ hybridization (FISH) with an X chromosome painting probe showed premature X chromosome separation in 9.5% cases of examined chromosome spreads. In this report, we present the first identify premature centromere division (PCD) as a possible cause of abnormal X chromosome morphology in horses and as a probable cause of reproductive difficulties.

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Premature chromatid separation (PCS) vs. premature centromere division (PCD)

Cited by 15 publications

References 11 publications

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy

Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties

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