Mammalian aneuploidy. Medical search. Frequent questions

iii) we develop new tools to study meiosis in mammalian oocytes in order to open new venues for research for the Department and for the meiosis community. (uni-goettingen.de)
Mammalian oocytes store mRNAs in a mitochondria-associated membraneless compartment. (uni-goettingen.de)
A liquid-like spindle domain promotes acentrosomal spindle assembly in mammalian oocytes. (uni-goettingen.de)
Abstract: The Schuh lab studies meiosis in mammalian oocytes. (ucla.edu)
In her presentation, Melina will summarize her lab's recent research on the spindle in mammalian oocytes. (ucla.edu)
Her lab found that human oocyte spindles are surprisingly unstable, and identified functions for actin and a liquid-like meiotic spindle domain for spindle assembly in mammalian oocytes. (ucla.edu)
Gasic, S., Mihola, O. & Trachtulec, Z. Prdm9 deficiency of rat oocytes causes synapsis among non-homologous chromosomes and aneuploidy. (cuni.cz)
Here we show that depletion of Mad2 in meiosis I mouse oocytes induced an increased incidence of aneuploidy. (ncl.ac.uk)
We conclude that Mad2 delays the onset of cyclin B and securin degradation and averts aneuploidy during meiosis I in mammalian oocytes. (ncl.ac.uk)
Levasseur MD, Thomas C, Davies OR, Higgins JMG, Madgwick S. Aneuploidy in oocytes is prevented by sustained CDK1 activity through degron masking in cyclin B1 . (ncl.ac.uk)
In 2007, he joined Jan Ellenberg's group at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, as a postdoctoral fellow, where he revealed chromosome dynamics in mammalian oocytes. (riken.jp)
In 2012, he joined the RIKEN Center for Developmental Biology (CDB) as a team leader of the Laboratory for Chromosome Segregation, to study chromosome segregation in oocytes and how it leads to aging-associated egg aneuploidy. (riken.jp)

Chromosome segregation errors increase in women from their mid-thirties, leading to even higher levels of aneuploidy in eggs from women of advanced maternal age, ultimately causing age-related infertility. (mbexc.de)
Here, we cover the two main areas that contribute to aneuploidy: (1) factors that influence the fidelity of chromosome segregation in eggs of women from all ages and (2) factors that change in response to reproductive ageing. (mbexc.de)
Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). (wikipedia.org)
Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)
In this review, we discuss some aspects of early embryonic development in mammals, namely the fidelity of chromosome segregation and occurrence of aneuploidy, as well as the clinical applications of cell cycle monitoring in human embryos. (ehu.eus)
Pinkel D., Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome specific DNA probes, Mutat. (gse-journal.org)
Plk1, the most thoroughly characterized member among the mammalian Plks, has multiple important roles in mitosis and cytokinesis, such as centrosome maturation, bipolar spindle formation, kinetochore-microtubule dynamics, activation of the anaphase promoting complex, chromosome segregation and execution of cytokinesis [ 3 , 4 , 13 ]. (oncotarget.com)
This is explained by relatively low gene density in both the X and the Y chromosome and by random X chromosome inactivation in mammalian females buffering the effect of X-aneuploidies. (pacb.com)
Analysis of the molecular mechanisms involved in chromatin dynamics, homologous recombination, and chromosome segregation during meiosis will elucidate causes for infertility and birth defects as a result of aneuploidy. (upenn.edu)
If not, in phenomena such as Haploinsufficiency, aneuploidy or other forms of chromosome abnormality, these gene dosage alterations can cause severe defects ultimately resulting in developmental failures and disease. (mpg.de)

In the main part of her talk, she will present recent work from her lab that sheds light on the origin of high aneuploidy rates in mammalian embryos. (ucla.edu)
This may contribute to the high aneuploidy rates observed in female meiosis. (figshare.com)

Parental genome unification is highly error-prone in mammalian embryos. (uni-goettingen.de)
Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences. (nih.gov)
Using bovine embryos as a model for human embryos, we identify an error-prone mechanism of parental genome unification which often results in aneuploidy. (ucla.edu)
Simultaneous assessment of aneuploidy, polymorphisms, and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform. (takarabio.com)
Our results indicate that a failure to successfully accomplish these essential milestones impedes the developmental potential of pre-implantation embryos and is likely to have important implications, similar to aneuploidy, for the success of assisted reproductive cycles. (babraham.ac.uk)

In mitosis, the spindle checkpoint protein Mad2 averts aneuploidy by delaying anaphase onset until chromosomes align. (ncl.ac.uk)

However, human eggs frequently contain an incorrect number of chromosomes - a condition termed aneuploidy, which is much more prevalent in eggs than in either sperm or in most somatic cells. (mbexc.de)
Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
In particular, the silencing of the sex chromosomes is a hallmark of mammalian meiosis, and yet its function and mechanism remains poorly understood. (cornell.edu)

Study of molecular mechanisms of mammalian sperm motility and testicular degeneration has implications for treatment of infertility. (upenn.edu)
During pre-implantation stages of mammalian development, maternally stored material promotes both the erasure of the sperm and oocyte epigenetic profiles and is responsible for concomitant genome activation. (babraham.ac.uk)

No aneuploidy or chromosomal aberration is found in cultured human lymphocytes. (inchem.org)

Aneuploidy arises as a consequence of aberrant meiosis during egg development from its progenitor cell, the oocyte. (mbexc.de)
Aneuploidy frequently arises during the early mitotic divisions of the embryo, but the origin of this remains elusive. (ucla.edu)

In an in vitro mammalian cell gene mutation test performed similarly to OECD guideline 476, L5178Y/ TK+/- mouse lymphoma cells were exposed to sodium arsenate at concentrations of 26, 34, 46, 61 and 81 μg/mL in the absence of metabolic activation and the exposure duration was 3 hours. (europa.eu)
A recently published Position Statement (PS) by the Preimplantation Genetics Diagnosis International Society (PGDIS) regarding utilization of preimplantation genetic testing for aneuploidy (PGT-A) in association with in vitro fertilization (IVF) contained inaccuracies and misrepresentations. (biomedcentral.com)
Here presented consensus offers an alternative to the 2019 PGDIS position statement regarding utilization of preimplantation genetic testing for aneuploidy (PGT-A) in association with in vitro fertilization (IVF). (biomedcentral.com)

In turn, aneuploidy in eggs is a leading cause of infertility, miscarriage and congenital syndromes. (mbexc.de)
This makes aneuploidy in eggs the most common cause of pregnancy losses and age-related infertility. (uni-goettingen.de)
The objective of our laboratory is to analyze causes of chromosomal abnormalities and the maternal age effect in mammalian eggs, including human eggs. (embo.org)
This work has important implications for human health because aneuploidy in eggs is a leading cause of pregnancy loss, birth defects and infertility. (embo.org)

Summing up, we are trying to understand the mechanisms by which microRNAs regulate mammalian cell cycle and DNA replication in normal and pathological conditions. (nii.res.in)
Hilz S., Modzelewski A.J., Cohen P.E. , and Grimson A. The roles of microRNAs and siRNAs in mammalian spermatogenesis. (cornell.edu)

Meiosis II-nondisjunction may also result in aneuploidy syndromes, but only to a much smaller extent than do segregation failures in meiosis I. Division of somatic cells through mitosis is preceded by replication of the genetic material in S phase. (wikipedia.org)
Cell transformation is induced in mammalian cells. (inchem.org)
In contrast, studies reporting DNA damage in bacteria, induction of SCE in mammalian cells or tests in inappropriate test systems such as yeasts are considered to contribute far less to the overall assessment and are therefore not further discussed. (europa.eu)
Griseofulvin interferes with chromosomal distribution during cell division, causing aneuploidy in plant and mammalian cells. (recallguide.org)
This paper compared the performance of the PicoPLEX DNA-seq Kit , the DOPlify WGA Kit, the REPLI-g Single Cell Kit, and the Ampli1 WGA Kit for aneuploidy screening and copy number analysis using shallow whole genome sequencing, starting from one, three, or five cells isolated from the Loucy cell line. (takarabio.com)
Analysis of PicoPLEX WGA products provided a correct diagnosis for 16/16 cells, with detection of 16/16 individual aneuploidies. (takarabio.com)
Therefore, we are trying to understand the independent mechanism by which mammalian cells effectively inhibit the replication machinery during stress preventing it from drifting towards a catastrophic path of genomic instability. (nii.res.in)
Thus, inactive p53 is not associated with a susceptible cytotoxicity of Polo-like kinase 1 inhibition and could rather foster the induction of polyploidy/aneuploidy in surviving cells. (oncotarget.com)
Interestingly, the MSL complex is also present in mammalian cells. (mpg.de)

We therefore suggest that energy loss (e.g., through impaired mitochondria) or disturbance of information (e.g., through mutations or aneuploidy) or changes in the composition or distribution of matter (e.g., through micro-environmental changes or toxic agents) can irreversibly disturb molecular mechanisms, leading to increased local entropy of cellular functions and structures. (frontiersin.org)
Amitrole induced mutations at two loci in one mammalian cell line. (inchem.org)

Surveys of cases of human aneuploidy syndromes have shown that most of them are maternally derived. (wikipedia.org)

The Tel2 (also known as Telo2) and Tti1 proteins control the cellular abundance of mammalian PIKKs and are integral components of mTORC1 and mTORC2. (cipsm.de)
During this time, she become interested in germ cell biology and genome integrity, and transitioned into this area to study the roles of DNA repair proteins in mammalian meiosis. (cornell.edu)

When mammalian cell experiences DNA damage, it activates checkpoint mechanisms to stall the progression of cell cycle and DNA replication. (nii.res.in)

Nothing is known about the transmission genetics of vertically transmitted Leishmania populations ( 8 , 20 , 21 ) or how the absence of vector stages affects the establishment or pathogenicity of mammalian infections. (cdc.gov)

Aneuploidy Test Development: Kinetochore Staining in Mammalian Systems. (epa.gov)
We have, however, a still very limited understanding of how multiple events are coordinated during rapid development of an early mammalian embryo. (ehu.eus)
The distribution of oestrogen receptors in mammalian tissues suggests that oestrogens could have a significant role in orchestrating a number of pathways in living organisms during development and adulthood. (biomedcentral.com)

History of this disorder can be traced to as early as 1937, when Australian veterinary scientists recognized the critical role of copper in mammalian neurodevelopment through the association of copper deficiency with demyelinating disease in ataxic lambs. (medscape.com)

Leishmania RNA virus (LRV) is a double-stranded RNA (dsRNA) virus that is thought to contribute to the severe inflammatory response of the causative Leishmania parasite in the mammalian host by being present in many isolates of Leishmania spp. (bvsalud.org)

We are developing single-cell genome sequencing technologies to enable the discovery of the entire spectrum of DNA mutation -including the acquisition of ploidy changes, aneuploidies, copy number variants, structural variants, retrotranspositions, indels, and single nucleotide variants. (sanger.ac.uk)

SIRT7 is a member of the mammalian sirtuin family and functions as a NAD+-dependent deacylase. (pluto.bio)

Since it is well recognized that errors in the centrosome duplication contribute to tumorigenesis we are interested in determining the role of replication factors in preventing aneuploidy. (nii.res.in)

[3] Aneuploidy can occur with sex chromosomes or autosomes . (wikipedia.org)
If the separation is improperly executed, this could result in the segregation of both sisters to the same cell thereby generating an abnormal number of chromosomes (aneuploidy). (epiphanyasd.com)
Aneuploidy is the result of losing or gaining chromosomes during cell division. (omrf.org)
Using single-cell DNA sequencing after an error-prone mitosis in untransformed, diploid cell lines and organoids, chromosomes are shown to have different segregation error frequencies that result in non-random aneuploidy landscapes. (nature.com)

When the result of the bacterial test is positive, it is important to consider the possibility of the substance being genotoxic in mammalian cells, whereas a negative response would generally not require any further testing. (europa.eu)

Dissertation title: Cellular mechanisms of aneuploidy induction in mammalian cells: role of mitotic spindle and mitotic checkpoint. (vt.edu)
Homer HA, McDougall A, Levasseur M, Murdoch AP, Herbert M. [abstract] Spindle assembly checkpoint dysfunction: a molecular correlate for human aneuploidy . (ncl.ac.uk)
Homer HA, McDougall A, Levasseur M, Herbert M. Restaging the spindle assembly checkpoint in female mammalian meiosis I . Cell Cycle 2005, 4 (5), 650-653. (ncl.ac.uk)
Aneuploidy in human eggs: contributions of the meiotic spindle. (mpg.de)
A liquid-like spindle domain promotes acentrosomal spindle assembly in mammalian oocytes. (mpg.de)
2006). Mammalian CLASP1 and CLASP2 cooperate to ensure mitotic fidelity by regulating spindle and kinetochore function . (up.pt)

Because clinical prognosis and tumor aneuploidy are tightly linked in human bladder cancer, we examined whether increased STK15 copy number and protein levels are linked to aneuploidy in bladder cancers. (nih.gov)
The putative mammalian homolog of Nopo was named 'TRAF-interacting protein' (TRIP) based on its ability to bind tumor necrosis factor (TNF) receptor-associated factors (TRAFs) (Lee, 1997). (sdbonline.org)

The BCL-2 pathway preserves mammalian genome integrity by eliminating recombination-defective oocytes. (mpg.de)
Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a whole-genome alignment of 240 species of considerable phylogenetic diversity, comprising representatives from more than 80% of mammalian families. (harvard.edu)
The instability following whole-genome duplications is thought to provide adaptive mutations in microorganisms and can promote tumorigenesis in mammalian cells. (iucc.ac.il)
Variation in Genome-Wide Levels of Meiotic Recombination Is Established at the Onset of Prophase in Mammalian Males. (prelekara.sk)

Origins and mechanisms leading to aneuploidy in human eggs. (mpg.de)
To dissect the mechanisms regulating homolog pairing and inter-chromosomal communications, our lab employs the Oligopaint fluorescence in-situ hybridization (FISH) technology, live imaging, and high-throughput genomics-based assays in insect and mammalian model systems. (nih.gov)

While lower cell numbers in trophectoderm may be attributed to apoptosis, it appeared that aneuploidy impairs the second lineage segregation and primitive endoderm formation in particular. (elifesciences.org)

In collaboration with our neighbor, Roberto Pezza, we have found that centromere pairing can also occur in mammalian meiosis . (omrf.org)

Maternal age does not always predict aneuploidy risk, and rare gene variants can be drivers of disease. (nih.gov)
STK15 gene amplification and associated increased expression of the mitotic kinase it encodes are associated with aneuploidy and aggressive clinical behavior in human bladder cancer. (nih.gov)

6. Meiotic arrest and aneuploidy in MLH3-deficient mice. (nih.gov)

In this study we investigated the cellular consequences of aneuploidy in a total of 85 human blastocysts. (elifesciences.org)
The Tel2 (also known as Telo2) and Tti1 proteins control the cellular abundance of mammalian PIKKs and are integral components of mTORC1 and mTORC2. (cipsm.de)

Preimplantation genetic testing for aneuploidies (PGT-A) using trophectoderm (TE) biopsy samples is labour intensive, invasive, and subject to sampling bias. (nih.gov)

Furthermore, a broad spectrum of tissues of Cep57T/T mice had severe aneuploidy at birth, consistent with the MVA patient phenotype. (nih.gov)
These data indicate that mammalian tissues retain a record of youthful epigenetic information-encoded in part by DNA methylation-that can be accessed to improve tissue function and promote regeneration in vivo. (harvard.edu)

Thus, the extensive sets of expertise present in our team will be combined and expanded with novel technologies to tackle the big challenge of the origins of aneuploidy in humans. (irb.hr)

In this study, we report on the efficacy and factors affecting accuracy of a technique we pioneered for minimally invasive preimplantation genetic testing for aneuploidy (miPGT-A). Our technique uses cell-free embryonic DNA (cfeDNA) in spent embryo culture medium (SEM) combined with blastocoel fluid (BF) to increase the amount of assayable cfeDNA. (nih.gov)
G1, S, G2 and M phases are the traditional subdivisions of a typical mammalian cell cycle. (medscape.com)
I built up the mammalian cytogenetics, and mammalian germ cell mutagenesis programs from scratch to a fairly large operation. (nih.gov)
Three mammalian sirtuins are located within the mitochondria (SIRT3, SIRT4, and SIRT5), while the other sirtuins exert their functions within the cytosol (Sirt2), in the cell nucleus (Sirt1 and Sirt6), or within the nucleoli (Sirt7) (Table 1 ). (biomedcentral.com)

[13] Increased aneuploidy is often associated with increased DNA damage in spermatozoa. (wikipedia.org)

Meet Microbial Cell's editorial board, which includes renowned scientists in diverse fields of unicellular and mammalian research, warranting the quality of our published articles. (microbialcell.com)

Anatomy27

Organisms2

Diseases22

Chemicals and Drugs13

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Phenomena and Processes50

Disciplines and Occupations1

Information Science3

Health Care2

Oocytes12

Chromosome10

High aneuploidy rates2

Embryos5

Anaphase1

Chromosomes3

Sperm2

Lymphocytes1

Arises2

Vitro3

Eggs4

MicroRNAs2

Cells9

Mutations2

Human1

Proteins2

Checkpoint1

Stages1

Development3

Early1

Present1

Copy1

Member1

Factors1

Chromosomes4

Genotoxic1

Spindle6

Tumor2

Genome4

Mechanisms2

Impairs1

Meiosis1

Gene2

Meiotic1

Cellular2

Trophectoderm1

Tissues2

Origins1

Cell4

Damage1

Research1