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Aneuploidy

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https://www.readbyqxmd.com/read/28087838/does-the-assessment-of-non-disjunction-provide-a-more-sensitive-assay-for-detection-of-aneugens
#1
Joanne M Elloway, Alexandra K Davies, Julie Hayes, Ann T Doherty
The detection of aneugenic chemicals is important due to the implications of aneuploidy for human health. Aneuploidy can result from chromosome loss or non-disjunction due to chromosome mis-segregation at anaphase. Frequently, aneugens are detected using the in vitro micronucleus assay (IVM), with either centromere or kinetochore labelling. However, this method does not consider non-disjunction, the suggested predominant mechanism of spindle poison induced aneugenicity in primary human lymphocytes. Therefore, the IVM may be relatively insensitive in detecting aneuploidy...
January 13, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28080987/ploidy-dynamics-and-evolvability-in-fungi
#2
REVIEW
Noa Blutraich Wertheimer, Neil Stone, Judith Berman
Rapid responses to acute stresses are essential for stress survival and are critical to the ability of fungal pathogens to adapt to new environments or hosts. The rapid emergence of drug resistance is used as a model for how fungi adapt and survive stress conditions that inhibit the growth of progenitor cells. Aneuploidy and loss of heterozygosity (LOH), which are large-scale genome shifts involving whole chromosomes or chromosome arms, occur at higher frequency than point mutations and have the potential to mediate stress survival...
December 5, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28079901/the-clinical-utility-of-dna-based-screening-for-fetal-aneuploidy-by-primary-obstetrical-care-providers-in-the-general-pregnancy-population
#3
Glenn E Palomaki, Edward M Kloza, Barbara M O'Brien, Elizabeth E Eklund, Geralyn M Lambert-Messerlian
OBJECTIVE: To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population. METHODS: Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28077090/gbs-based-single-dosage-markers-for-linkage-and-qtl-mapping-allow-gene-mining-for-yield-related-traits-in-sugarcane
#4
Thiago Willian Almeida Balsalobre, Guilherme da Silva Pereira, Gabriel Rodrigues Alves Margarido, Rodrigo Gazaffi, Fernanda Zatti Barreto, Carina Oliveira Anoni, Cláudio Benício Cardoso-Silva, Estela Araújo Costa, Melina Cristina Mancini, Hermann Paulo Hoffmann, Anete Pereira de Souza, Antonio Augusto Franco Garcia, Monalisa Sampaio Carneiro
BACKGROUND: Sugarcane (Saccharum spp.) is predominantly an autopolyploid plant with a variable ploidy level, frequent aneuploidy and a large genome that hampers investigation of its organization. Genetic architecture studies are important for identifying genomic regions associated with traits of interest. However, due to the genetic complexity of sugarcane, the practical applications of genomic tools have been notably delayed in this crop, in contrast to other crops that have already advanced to marker-assisted selection (MAS) and genomic selection...
January 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28073006/bcl9l-dysfunction-impairs-caspase-2-expression-permitting-aneuploidy-tolerance-in-colorectal-cancer
#5
Carlos López-García, Laurent Sansregret, Enric Domingo, Nicholas McGranahan, Sebastijan Hobor, Nicolai Juul Birkbak, Stuart Horswell, Eva Grönroos, Francesco Favero, Andrew J Rowan, Nicholas Matthews, Sharmin Begum, Benjamin Phillimore, Rebecca Burrell, Dahmane Oukrif, Bradley Spencer-Dene, Michal Kovac, Gordon Stamp, Aengus Stewart, Havard Danielsen, Marco Novelli, Ian Tomlinson, Charles Swanton
Chromosomal instability (CIN) contributes to cancer evolution, intratumor heterogeneity, and drug resistance. CIN is driven by chromosome segregation errors and a tolerance phenotype that permits the propagation of aneuploid genomes. Through genomic analysis of colorectal cancers and cell lines, we find frequent loss of heterozygosity and mutations in BCL9L in aneuploid tumors. BCL9L deficiency promoted tolerance of chromosome missegregation events, propagation of aneuploidy, and genetic heterogeneity in xenograft models likely through modulation of Wnt signaling...
January 9, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28070710/the-accumulation-of-vitrified-oocytes-is-a-strategy-to-increase-the-number-of-euploid-available-blastocysts-for-transfer-after-preimplantation-genetic-testing
#6
Sandrine Chamayou, Maria Sicali, Carmelita Alecci, Carmen Ragolia, Annalisa Liprino, Daniela Nibali, Giorgia Storaci, Antonietta Cardea, Antonino Guglielmino
PURPOSE: In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together with previously accumulated vitrified oocytes. METHODS: Sixty-nine patients with normal ovarian reserve underwent PGD-A for repeated implantation failure or recurrent pregnancy loss indication...
January 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28069184/sperm-aneuploidy-after-testicular-cancer-treatment-data-from-a-prospective-multicenter-study-performed-within-the-french-centre-d-%C3%A3-tude-et-de-conservation-des-oeufs-et-du-sperme-network
#7
Nathalie Rives, Marie Walschaerts, Véronique Setif, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Jacques Auger, Isabelle Berthaut, Ethel Szerman, Myriam Daudin, Louis Bujan
OBJECTIVE: To study sperm aneuploidy in a population of testicular cancer (TC) patients treated with the use of either bleomycin-etoposide-cisplatin (BEP) chemotherapy or radiotherapy. DESIGN: Multicenter prospective longitudinal study of TC patients analyzed before treatment and after 3, 6, 12, and 24 months (T3-T24). PATIENT(S): Fifty-four TC patients and a control group of 10 fertile sperm donors. SETTING: University hospital laboratories...
January 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28069132/molecular-regulation-of-the-spindle-assembly-checkpoint-by-kinases-and-phosphatases
#8
G Manic, F Corradi, A Sistigu, S Siteni, I Vitale
The spindle assembly checkpoint (SAC) is a surveillance mechanism contributing to the preservation of genomic stability by monitoring the microtubule attachment to, and/or the tension status of, each kinetochore during mitosis. The SAC halts metaphase to anaphase transition in the presence of unattached and/or untensed kinetochore(s) by releasing the mitotic checkpoint complex (MCC) from these improperly-oriented kinetochores to inhibit the anaphase-promoting complex/cyclosome (APC/C). The reversible phosphorylation of a variety of substrates at the kinetochore by antagonistic kinases and phosphatases is one major signaling mechanism for promptly turning on or turning off the SAC...
2017: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/28068896/erratum-to-nuclear-envelope-structural-defect-underlies-the-main-cause-of-aneuploidy-in-ovarian-carcinogenesis
#9
Callinice D Capo-Chichi, Toni M Yeasky, Elizabeth R Smith, Xiang-Xi Xu
No abstract text is available yet for this article.
January 9, 2017: BMC Cell Biology
https://www.readbyqxmd.com/read/28065314/an-active-contour-imagej-plugin-to-monitor-daughter-cell-size-in-3d-during-cytokinesis
#10
M B Smith, A Chaigne, E K Paluch
Controlling relative daughter cell size is key during cytokinesis. Uncontrolled size asymmetries can lead to aneuploidy and division failure. At the same time, precisely regulated size asymmetries are of crucial importance in many divisions during embryonic development. Therefore, being able to monitor daughter cell size is important in cytokinesis studies. However, freely available tools allowing to effectively measure the size of daughter cells in three dimensions during cytokinesis are missing. Here, we describe an open-access plugin for ImageJ or Fiji based on an active contour surface representation of the cells...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28057846/beyond-the-oncogene-revolution-four-new-ways-to-combat-cancer
#11
Thorsten Berger, Mary E Saunders, Tak W Mak
It has become clear that tumorigenesis results from much more than just the activation of an oncogene and/or the inactivation of a tumor-suppressor gene, and that the cancer cell genome contains many more alterations than can be specifically targeted at once. This observation has led our group to a search for alternative ways to kill cancer cells (while sparing normal cells) by focusing on properties unique to the former. We have identified four approaches with the potential to generate new anticancer therapies: combatting the tactics by which cancers evade antitumor immune responses, targeting metabolic adaptations that tumor cells use to survive conditions that would kill normal cells, manipulating a cancer cell's response to excessive oxidative stress, and exploiting aneuploidy...
January 5, 2017: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/28049655/the-role-of-aneuploidy-in-cancer-evolution
#12
REVIEW
Laurent Sansregret, Charles Swanton
Chromosomal aberrations during cell division represent one of the first recognized features of human cancer cells, and modern detection methods have revealed the pervasiveness of aneuploidy in cancer. The ongoing karyotypic changes brought about by chromosomal instability (CIN) contribute to tumor heterogeneity, drug resistance, and treatment failure. Whole-chromosome and segmental aneuploidies resulting from CIN have been proposed to allow "macroevolutionary" leaps that may contribute to profound phenotypic change...
January 3, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28040122/vitrification-of-mouse-mii-oocytes-developmental-competency-using-paclitaxel
#13
Farzaneh Fesahat, Azita Faramarzi, Arezoo Khoradmehr, Marjan Omidi, Fatemeh Anbari, Mohammad Ali Khalili
OBJECTIVE: Oocyte cryopreservation provides an important alternative for fertility preservation for women who will be treated with cytotoxic drugs. However, it can cause spindle disorganization of microtubules, putting the zygote at risk for aneuploidy. Paclitaxel is known to stabilize the microtubules that constitute the spindle. The aim of this study was to investigate the suitable concentration of paclitaxel for adding to the vitrification media to improve the developmental potential of post-thawed mature oocytes to blastocyst formation in mice...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040094/introduction-subchromosomal-abnormalities-in-preimplantation-embryonic-aneuploidy-screening
#14
Richard T Scott
The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28040093/diagnosis-and-clinical-management-of-duplications-and-deletions
#15
REVIEW
Antonio Capalbo, Laura Rienzi, Filippo Maria Ubaldi
Chromosome deletions and duplications-copy number variations (CNVs)-are a major contribution to the genome variability and can be either pathogenic or not. A particular class, the microdeletions and microduplications, which alter <5 Mb, have been extensively associated with developmental delay and intellectual disability. Although their prevalence in pregnancies and newborn is relatively low, their estimates in preimplantation embryos are poorly defined. The introduction of novel technologies for preimplantation genetic diagnosis of aneuploidies (PGD-A) caused new possibilities and challenges associated with diagnosis of subchromosomal CNVs...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28039471/aneuploidy-related-transcriptional-changes-in-endometrial-cancer-link-low-expression-of-chromosome-15q-genes-to-poor-survival
#16
Karen Klepsland Mauland, Elisabeth Wik, Erling A Hoivik, Kanthida Kusonmano, Mari Kyllesø Halle, Anna Berg, Hans Kristian Haugland, Anne Margrete Øyan, Karl-Henning Kalland, Ingunn Marie Stefansson, Lars A Akslen, Camilla Krakstad, Jone Trovik, Henrica Maria Johanna Werner, Helga Birgitte Salvesen
Aneuploidy is a widely studied prognostic marker in endometrial cancer (EC), however, not implemented in clinical decision-making. It lacks validation in large prospective patient cohorts adjusted for currently standard applied prognostic markers, including estrogen/progesterone receptor status (ER/PR). Also, little is known about aneuploidy-related transcriptional alterations, relevant for understanding its role in EC biology, and as therapeutic target.We included 825 EC patients with available ploidy status and comprehensive clinicopathologic characterization to analyze ploidy as a prognostic marker...
December 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/28038458/chromosome-nondisjunction-during-bipolar-mitoses-of-binucleated-intermediates-promote-aneuploidy-formation-along-with-multipolar-mitoses-rather-than-chromosome-loss-in-micronuclei-induced-by-asbestos
#17
Tianwei Zhang, Lei Lv, Yun Huang, Xiaohui Ren, Qinghua Shi
Asbestos is a well-known occupational carcinogen that can cause aneuploidy during the early stages of neoplastic development. To explore the origins of asbestos-induced aneuploidy, we performed long-term live-cell imaging followed by fluorescence in situ hybridization of chromosomes 8 and 12 in human bronchial epithelial (HBEC) and mesothelial (MeT5A) cells. We demonstrate that asbestos induces aneuploidy via binucleated intermediates resulting from cytokinesis failure. On the one hand, asbestos increases chromosome nondisjunction during bipolar divisions of binucleated intermediates and produces near-tetraploidy...
December 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/28031327/inpp5e-preserves-genomic-stability-through-regulation-of-mitosis
#18
Elizabeth A Sierra Potchanant, Donna Cerabona, Zahi Abdul Sater, Ying He, Zejin Sun, Jeff Gehlhausen, Grzegorz Nalepa
The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase mutated in the developmental disorders Joubert and MORM syndromes, is essential for the function of the primary cilium and maintenance of phosphoinositide balance in non-dividing cells. Here, we report that INPP5E further contributes to cellular homeostasis by regulating cell division. We found that silencing or genetic knockout of INPP5E in human and murine cells impairs the spindle assembly checkpoint, centrosome and spindle function, and maintenance of chromosomal integrity...
December 28, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28028179/functional-effects-of-akt3-on-aurora-kinase-inhibitor-induced-aneuploidy
#19
Kohji Noguchi, Keita Hongama, Shiori Hariki, Yuma Nonomiya, Kazuhiro Katayama, Yoshikazu Sugimoto
The suppression of mitotic Aurora kinases (AURKs) by AURK inhibitors frequently causes cytokinetic failure, leading to polyploidy or aneuploidy, indicating the critical role of AURK-mediated phosphorylation during cytokinesis. We demonstrate the deregulated expression of AKT3 in Aurora kinase inhibitor (AURKi)-resistant cells, which we established from human colorectal cancer HCT 116 cells. The AKT family, which includes AKT1, -2, and -3, plays multiple roles in antiapoptotic functions and drug resistance and is involved in cell growth and survival pathways...
December 27, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28027672/relationship-between-first-trimester-aneuploidy-screening-test-serum-analytes-and-placenta-accreta
#20
Barış Büke, Hatice Akkaya, Sibel Demir, Sermet Sağol, Deniz Şimşek, Güneş Başol, Burcu Barutçuoğlu
OBJECTIVE: The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fβhCG) MoM values and placenta accreta in women who had placenta previa. STUDY DESIGN: A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta...
December 27, 2016: Journal of Maternal-fetal & Neonatal Medicine
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