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Showing 1 to 20 of 125 for “"Aneuploidy"”.
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Several consequences of aneuploidy
Whole-chromosome aneuploidy, or a karyotype that is not a multiple of the haploid complement, is the most common cause of miscarriage and developmental delay in humans. Aneuploidy is also a hallmark of cancer: greater than 90% of tumors display chromosomal copy number alterations. Thus, …
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DECIPHERING AND EXPLOITING ANEUPLOIDY IN CANCER
Aneuploidy - a state of karyotype imbalance – arises from errors in the process of chromosome segregation and induces a multitude of cellular stresses that are mostly detrimental in untransformed cells. Importantly, aneuploidy is a pervasive feature of tumors, being present in the vast majority of …
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Aneuploidy causes proteotoxic stress in Saccharomyces cerevisiae
Gains or losses of entire chromosomes lead to aneuploidy, a condition tolerated poorly in all eukaryotes analyzed to date. How aneuploidy affects organismal and cellular physiology is only beginning to be understood. Aneuploidy also has a profound impact on human health; it is the leading cause of …
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Defining the role of aneuploidy throughout tumorigenesis
Aneuploidy is a state of genome imbalance which alters the copy number of whole chromosomes. While aneuploidy is rare in healthy tissues, it is one of the most common features of cancerous tumors. Studies of aneuploid yeast and aneuploid mammalian cells growing in culture revealed that aneuploidy …
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Preventing aneuploidy and the consequences of failure
… incorrect chromosome number: a condition called aneuploidy. Aneuploidy has been associated with several developmental defects and is a hallmark of cancer. Meiotic segregation errors are quite frequent in humans and are responsible for the 'maternal age effect.' This thesis addresses both the …
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Aneuploidy and DNA fragmentation in morphologically abnormal sperm
… (TUNEL) assays to determine the level of aneuploidy and DNA fragmentation, respectively. These results were also compared to that of sperm from control men (n=9) of proven fertility and normal seminal parameters. Results: Sperm from teratozoospermic men, compared to control men, had higher …
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Exploring the role of aneuploidy in phenotypic variability
… However, work in yeast and mouse models of aneuploidy suggest that phenotypic variability can be a consequence of aneuploidy itself in the absence of genetic heterogeneity. By studying variability in induction of the GAL1-10 promoter in aneuploid strains of budding yeast, S. cerevisiae, we …
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The Benefits and Detriments of Aneuploidy in Cancer
Aneuploidy, defined as having a chromosome number that is not a multiple of the organism’s haploid number, is a hallmark of cancer. This creates an imbalanced karyotype, where the copy number of hundreds or thousands of genes is altered. About 90% of solid tumors and 70% of blood cancers are …
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Transcriptional and developmental consequences of aneuploidy during male meiosis
… frequently perturb fertility. Mouse models of aneuploidy often exhibit complete male sterility and early germ cell arrest, preventing the study of aneuploidy during late and post-meiotic stages in males. In this thesis, we have used the trans-chromosomic mouse model, Tc1, which carries a single …
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Effects of aneuploidy on growth and cell cycle progression
In budding yeast, aneuploidy has a detrimental effect in cell growth and proliferation. The work presented here shows that most aneuploid yeast strains delay cell cycle entry by increasing the critical size for budding and by decreasing the rate of volume accumulation during the G 1 phase of the …
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Aneuploidy reveals insights into control of protein complex stoichiometry
Aneuploidy, or an incorrect number of chromosomes, is caused by errors in chromosome segregation during cell division. Because genes are expressed in accordance with their copy number, aneuploidy simultaneously alters the gene dosage of hundreds to thousands of genes. The outcome is an imbalanced …
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Mechanical Confinement and Heat as Drivers of Aneuploidy in Cancer
Aneuploidy, defined as an abnormal number of chromosomes, is a hallmark of human cancers and contributes to tumor evolution, heterogeneity, and therapeutic resistance. While classically attributed to chromosome mis-segregation during mitosis, emerging evidence indicates that diverse physical and …
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A Mechanistic Evaluation of the Role of Aneuploidy During Oncogenesis
… during the segregation process often lead to aneuploidy, a state where cells harbor whole chromosome gains or losses. In untransformed cells, aneuploidy is highly detrimental to cell physiology, where it elicits multiple stress responses and impairs cell proliferation. Paradoxically, …
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Global and chromosome-specific consequences of aneuploidy in Saccharomyces cerevisiae
Aneuploidy, an unbalanced karyotype in which one or more chromosomes are present in excess or reduced copy number, causes an array of known cellular phenotypes including proteotoxicity, genomic instability and slowed proliferation. Organisms with constitutional genomic imbalance are less fit than …
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THE EFFECTS OF AGE AND HETEROCHROMATIN ON FREQUENCIES OF ACQUIRED CHROMOSOMAL ANEUPLOIDY IN UNCULTURED HUMAN LEUKOCYTES
While age-related sex chromosomal aneuploidy is a well-characterized phenomenon, the relationship between autosomal loss and age remains unclear. The emergence of the specific and highly sensitive fluorescence in situ hybridization (FISH) technology has enabled investigators to study interphase …
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Attitudes to ward and Utilization of Non-Invasive Prenatal Testing For Chromosome Aneuploidy Among Ob/Gyns
… searching for a way to diagnose a chromosome aneuploidy without putting the fetus or the mother at risk for complications. Non-invasive prenatal testing (NIPT) for chromosome aneuploidy became commercially available in the fall of 2011, with detection rates similar to those of invasive …
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The effects of aneuploidy on gene expression in a dosage series of maize chromosome arm 1L /
Aneuploidy is a class of genetic conditions involving an unbalanced number of chromosomes. The most familiar human aneuploid condition is trisomy 21, called Down syndrome. Aneuploid conditions necessarily involve a change in the dosage of those genes which are located on the varied chromosome. …
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The association between sperm aneuploidy and male infertility: Screening, aetiology and possible routes to alternative therapy
… Y deletions, karyotype abnormalities and gamete aneuploidy). This thesis is concerned with the association between infertility and increased sperm aneuploidy. Specific questions are: should males be screened for sperm aneuploidy before intracytoplasmic sperm injection (ICSI)? Is there a …
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