First meiotic division abnormalities in human oocytes: mechanism of trisomy formation

Angell, Roslyn; Jian, Xian; Keith, Jamie; Ledger, William; Baird, D. T.

doi:10.1159/000133631

Cited by 99 publications

(67 citation statements)

References 14 publications

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“…43 We found balanced predivision for all chromosomes analysed (Table 4), although no significant differences were observed. A balanced predivision for chromosome 16 has been reported in 1PBs from unfertilised 23,37 and fresh oocytes. 38,43 Chromatid predivision of chromosome 18 37 and chromosomes 2, 7, 8, 10, 11, 17, 19, 20, 21 and 22 38 has also been previously reported.…”

Section: Chromosome and Chromatid Alterationsmentioning

confidence: 90%

“…54 These results agree with the incidence of chromosome aneuploidy in karyotyped oocytes in naturally cycling women 50 and with the high rate of aneuploidy in older individuals. 23 Presence of extra chromosomes In 25.7% of the patients, oocytes with extra chromosomes were detected. Years ago, some authors 8,43 considered this kind of results as FISH errors but, more recently, by analysing embryonic cells 66 and analysing oocytes 37 these abnormalities were also detected.…”

Section: Aneuploidy Ratementioning

confidence: 99%

“…This allows the indirect characterisation of the chromosome constitution of the oocyte through the study of the 1PB. 23 By analysing 1PBs, errors related to embryo mosaicism can be avoided, there is time to perform up to three rounds of FISH and, if problems have occurred during the process, a blastomere can be biopsied and analysed on time before transfer. Recently, a preimplantation genetic diagnosis using IPB (PB (PGDÀ1PB)) protocol in which ICSI was performed before 1PB biopsy was applied, 24 and the fertilisation rate achieved was comparable to the one obtained in IVF-ICSI cycles without PGD.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies

et al. 2003

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We used fluorescent in situ hybridisation (FISH) to detect nine chromosomes (1,13,15,16,17,18,21,22 and X) in 89 first Polar Bodies (1PBs), from in vitro matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (Po0.0001, v 2 test); the 1PB was most affected. The mean abnormal segregation frequency for each chromosome was 0.89% (range 0.52-1.70%); so, each of the 23 chromosomes of an oocyte has a risk of 0.89% to be involved in aneuploidy. No significant differences were observed regarding age, type of abnormality (chromosome or chromatid alterations) or frequency of aneuploidy. Nine of the 35 patients (25.7%) whose 1PB and MII were studied presented abnormalities (extra chromosomes) that probably originated in early oogenesis. Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing in vitro fertilization (IVF) treatment.

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Section: Chromosome and Chromatid Alterationsmentioning

confidence: 90%

Section: Aneuploidy Ratementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies

et al. 2003

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“…Mouse studies indicate that cohesion is not replenished during dictyotene (Revenkova et al 2010;Tachibana-Konwalski et al 2010) and that both cohesion subunits and factors that function to protect centromeric cohesion until meiosis II are depleted in older animals (Hodges et al 2005;Liu and Keefe 2008;Chiang et al 2010;Lister et al 2010;Shomper et al 2014;Yun et al 2014). Although definitive proof of analogous "cohesion exhaustion" in aging human oocytes has been harder to obtain, the weight of evidence suggests that this is the case (Angell 1991;Angell et al 1994;Pellestor et al 2003;Garcia-Cruz et al 2010;Fragouli et al 2011;Tsutsumi et al 2014;Ottolini et al 2015).…”

Section: Clinical Significance Of Meiotic Recombinationmentioning

confidence: 99%

Meiotic Recombination: The Essence of Heredity

Hunter

2015

Cold Spring Harb Perspect Biol

696

869

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The study of homologous recombination has its historical roots in meiosis. In this context, recombination occurs as a programmed event that culminates in the formation of crossovers, which are essential for accurate chromosome segregation and create new combinations of parental alleles. Thus, meiotic recombination underlies both the independent assortment of parental chromosomes and genetic linkage. This review highlights the features of meiotic recombination that distinguish it from recombinational repair in somatic cells, and how the molecular processes of meiotic recombination are embedded and interdependent with the chromosome structures that characterize meiotic prophase. A more in-depth review presents our understanding of how crossover and noncrossover pathways of meiotic recombination are differentiated and regulated. The final section of this review summarizes the studies that have defined defective recombination as a leading cause of pregnancy loss and congenital disease in humans. MEIOSIS AND THE ROOTS OF RECOMBINATION RESEARCHT he concept of recombination emerged during the early 20th century, following the post-Mendel era of heredity research. Thomas Hunt Morgan's formal theory of gene linkage and crossing-over (Morgan 1913) was a synthesis of three key concepts: "the chromosome theory of inheritance," imparted by Wilhelm Roux, Walther Flemming, Theodor Boveri, and Walter Sutton; "gene linkage," an exception to Mendel's law of independent assortment, first reported by Carl Correns; and the "chiasmatype theory," derived from Frans Janssens' cytological observations of meiotic chromosomes. The first proof of the crossover theory came from Harriet Creighton and Barbara McClintock (Creighton and McClintock 1931), who were able to correlate cytological and genetic exchanges in maize.Experiments aimed at understanding the mechanism of meiotic recombination became dominated by fungal genetics because of the huge advantage afforded by being able to recover all four meiotic products. These elegant studies culminated in four key concepts that formed the foundation of molecular models of recombination: gene conversion, an exception to Mendel's principle of segregation, signaled a local nonreciprocal transfer of genetic information (Winkler 1930;Lindergren 1953;Mitchell 1955); postmeiotic segregation (PMS) indicated the presence of heteroduplex DNA (Olive 1959;Kitani et al. 1962) (Lissouba and Rizet 1960;Murray 1960); and the strong correlation between gene conversion/ PMS events and crossing-over led to the proposal that these processes were mechanistically linked (Kitani et al. 1962;Perkins 1962;Whitehouse 1963). MOLECULAR MODELS OF MEIOTIC RECOMBINATIONHolliday's classic model reconciled gene conversion, PMS, and crossing-over into a single mechanism with the key features of hybrid (heteroduplex) DNA formed via strand exchange, mismatch correction of hybrid DNA to yield gene conversion, and a four-way exchange junction that could be resolved to yield either crossover or noncrossover duplex products (Holliday...

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“…Studies of human oocytes led to an alternative model for the origin of aneuploidy (Angell 1991) suggesting that errors in meiosis can result in extra or missing chromatids (known as premature or precocious separation of sister chromatids -PS), as well as whole chromosomes in the daughter cells (See figure 1). Early studies of human oocytes supporting the hypothesis that precocious separation was the predominant mechanism leading to human aneuploidy were subject to recurring criticism (Angell 1991;Angell et al 1993;Angell et al 1994;Pellestor et al 2002;Kuliev et al 2003). It was argued that use of 'failed IVF' oocytes' prolonged time in culture, sub-optimal metaphase preparation technique, and lack of rigour in the analysis may have led to interpretation errors (Dailey et al 1996b;Lamb et al 1996;Lamb et al 1997;Mahmood et al 2000).…”

Section: Meiosismentioning

confidence: 99%