How do meiocytes recognize if chromosome pairing fails, how do they correct such errors, and how defective meiocytes are eliminated, in order to avoid the formation of gametes
with aneuploidy / abnormal genomes?
These new findings reveal that long, functional telomeres can sense chromosomal imbalances and suppress the proliferation and growth of cells
with aneuploidy.
In this context, telomerase activity can have unfavorable effects: «We found that this enzyme allows cells
with aneuploidy to bypass the protective function of telomeres.
Other times, parents born with a normal genetic makeup can have children born
with aneuploidy.
People
with aneuploidy may exhibit clusters of symptoms referred to as syndromes.
Depending on the genes that are missing or duplicated, some people can survive
with aneuploidy.
Not exact matches
Because a woman is born
with all the eggs she will ever have, advanced maternal age is associated
with an increased likelihood that eggs will exhibit
aneuploidy.
Aneuploidy is a genetic abnormality that can result in pregnancy loss or a child
with severe physical or mental disabilities.
When logistic models were stratified by the presence or absence of hypertensive disease, only maternal age older than 34 years (odds ratio [OR], 1.4; 95 % confidence interval [CI], 1.0 - 2.0), pregnancy - associated plasma protein - A of the 95th percentile or less (OR, 1.9; 95 % CI, 1.2 - 3.1), and alpha fetoprotein of the 95th percentile or greater (OR, 2.3; 95 % CI, 1.4 - 3.8) remained statistically significantly associated for abruption.In this large, population - based cohort study, abnormal maternal
aneuploidy serum analyte levels were associated
with placental abruption, regardless of the presence of hypertensive disease.
The objective of the study was to examine the association between placental abruption, maternal characteristics, and routine first - and second - trimester
aneuploidy screening analytes.The study consisted of an analysis of 1017 women
with and 136,898 women without placental abruption who had first - and second - trimester prenatal screening results, linked birth certificate, and hospital discharge records for a live - born singleton.
A high degree of
aneuploidy is a feature of high - grade tumors and is associated
with poor prognosis.
In 1914 Boveri observed that sea urchin embryos
with abnormal amounts of chromosomal material, a condition called
aneuploidy, looked cancerous.
When the cells have too many or too few (
aneuploidy), babies are born
with Down's Syndrome (three copies of chromosome 21); Patau syndrome (three copies of chromosome 13) and other conditions.
Aneuploidy is also a leading cause of miscarriage, and
with an estimated 1 in 7 pregnancies resulting in miscarriage.
«The organization of cell colonies and phenotypic switching between different types of colonies becomes a lot more flexible and rapid
with reversible
aneuploidy than if it depended on random mutations in the genes,» Skupin says.
Scientists from the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg, in collaboration
with colleagues from the US Institute for Systems Biology (ISB) in Seattle, have now systematically studied the genetics of this process, which biologists refer to as
aneuploidy.
The team's new insights will allow a new medical evaluation of
aneuploidy, which is associated
with certain diseases when it occurs in multicellular organisms.
Partly based on his MIT Ph.D. thesis research performed in yeast, Sheltzer suspects
aneuploidy causes errors in DNA replication, as well as problems
with chromosome segregation during cell division.
Researchers from Leibniz Institute for Age Research — Fritz Lipmann Institute (Jena, Germany) now identified a crucial role of telomeres, the end structures of chromosomes, for sensing cells
with a wrong chromosome number, referred to as
aneuploidy.
I'd like to conclude
with one of my favorite books, Oncogenes,
Aneuploidy, and AIDS, by Harvey Bialy, about the career of scientist Peter Duesberg.
Until now, one of the only ways of screening eggs or embryos for
aneuploidy was to use a technique called fluorescence in - situ hybridisation (FISH), in which specific chromosomes are stained
with small pieces of fluorescent DNA to...
An increasing body of work shows that similarly complex
aneuploidy variations play a role in some forms of cancer and we think that the rapid accumulation of NGS genomics data combined
with novel in - silico techniques - like the ones developed in our study - will soon lead to a better understanding of the relationships between
aneuploidy and allele selection».
Consistent
with the observed consequences of
aneuploidy in S. cerevisiae, all aneuploid C. neoformans strains in our study exhibited a TS phenotype (Figure 3A).
The unique 95 % uptake of first trimester combined and free - of - charge screening in Finland provides cffDNA second - tier screening for all screen - positive women and those
with a priority high risk for
aneuploidy.
In research funded by the Wellcome Trust, Professor Zernicka - Goetz and colleagues developed a mouse model of
aneuploidy by mixing 8 - cell stage mouse embryos in which the cells were normal
with embryos in which the cells were abnormal.
Remarkably, the short - term presence of cells
with supernumerary centrosomes in PLK4OE / p53cKO mice was sufficient to generate
aneuploidy in the adult epidermis and triggered spontaneous skin cancers
with complete penetrance.
Aneuploidy is associated
with a variety of diseases such as cancer and microcephaly.
This case includes the majority of tumor samples and perhaps genomes
with mosaic
aneuploidy.
We found that centrosome amplification triggers mitotic defects and the generation of a progeny
with an abnormal karyotype (
aneuploidy) unable to survive in the context of a developing brain.
We have also identified a transcriptional signature of
aneuploidy that is associated
with cellular stress and slow proliferation, and is found in aneuploid primary and cancer cells across a host of organisms.
Moreover, many human tumors have highly abnormal numbers of chromosomes (that is, they are aneuploid),
with initial chromosomal loss participating in the early steps of the transformation cascade in inherited cancers caused by heterozygous mutation in tumor suppressor genes and the more widespread
aneuploidy characteristic of advance tumors thought to drive acquisition of malignant growth properties.??
By identifying phenotypes that are shared among tumors
with different
aneuploidies, we hope to discover pathways that can be manipulated to selectively eliminate aneuploid cells or to block
aneuploidy's non-cell autonomous effects.
About 90 % of solid tumors display whole - chromosome
aneuploidy, while many tumors
with diploid karyotypes nonetheless harbor segmental or arm - length
aneuploidies that also result in significant gene copy number alterations.
Leishmania, a major protozoan parasite, is emerging as a new model for
aneuploidy, since in vitro - cultivated strains are highly aneuploid,
with interstrain diversity and intrastrain mosaicism.
Comparison of the L. adleri HO174 genome
with those of L. tarentolae Parrot - TarII and lizard - infecting L. adleri RLAT / KE / 1957 / SKINK - 7 showed extensive gene amplifications, pervasive
aneuploidy, and fission of chromosomes 30 and 36.
Results: We validate our approach using data
with known copy number, identifying the vast majority of
aneuploidies with a low rate of false discovery.
For reasons not completely understood, we have an extraordinarily high rate of
aneuploidy,
with ~ 10 % of clinically recognized pregnancies having a fetus
with too many or too few chromosomes.
Changes in chromosome copy numbers were correlated
with the corresponding transcript levels, but additional
aneuploidy - independent regulation of gene expression was observed.
It's an endocrine disruptor that mimics estrogen and has been linked to
aneuploidy, adipogenesis, and other scary problems
with funny names.