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Aneuploidy

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https://www.readbyqxmd.com/read/29330318/shifting-meiotic-to-mitotic-spindle-assembly-in-oocytes-disrupts-chromosome-alignment
#1
Isma Bennabi, Isabelle Quéguiner, Agnieszka Kolano, Thomas Boudier, Philippe Mailly, Marie-Hélène Verlhac, Marie-Emilie Terret
Mitotic spindles assemble from two centrosomes, which are major microtubule-organizing centers (MTOCs) that contain centrioles. Meiotic spindles in oocytes, however, lack centrioles. In mouse oocytes, spindle microtubules are nucleated from multiple acentriolar MTOCs that are sorted and clustered prior to completion of spindle assembly in an "inside-out" mechanism, ending with establishment of the poles. We used HSET (kinesin-14) as a tool to shift meiotic spindle assembly toward a mitotic "outside-in" mode and analyzed the consequences on the fidelity of the division...
January 12, 2018: EMBO Reports
https://www.readbyqxmd.com/read/29330078/intraoperative-flow-cytometry-enables-the-differentiation-of-primary-central-nervous-system-lymphoma-from-glioblastoma
#2
Shunichi Koriyama, Masayuki Nitta, Takahiro Shioyama, Takashi Komori, Takashi Maruyama, Takakazu Kawamata, Yoshihiro Muragaki
OBJECTIVE: Accurate preoperative and intraoperative differentiation between primary central nervous system lymphoma (PCNSL) and glioblastoma (GBM) is sometimes difficult. Distinguishing between these tumors during surgery is important because surgical treatment is different between the two tumors. In this study, we established a new method of intraoperative differentiation between PCNSL and GBM using intraoperative flow cytometry (iFC), and we retrospectively tested whether iFC was useful for the intraoperative diagnosis of PCNSL and GBM...
January 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#3
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29318968/the-role-of-dna-repair-pathways-in-aml-chemosensitivity
#4
Elizabeth A Pearsall, Lisa F Lincz, Kathryn Anne Skelding
BACKGROUND: Defects in DNA repair pathways are causal factors for a plethora of solid tumours, but are only just beginning to be explored in haematological malignancies. Genomic instability, including mutations in DNA sequences, chromosomal aneuploidy, translocations and gene amplifications contribute to the development and progression of AML. Prior DNA damaging agent exposure enhances the risk of developing AML, as does inheritance of genetic syndromes that involve alterations in DNA repair pathways...
January 9, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29318599/mechanisms-of-kinetochore-microtubule-attachment-errors-in-mammalian-oocytes
#5
REVIEW
Tomoya S Kitajima
Proper kinetochore-microtubule attachment is essential for correct chromosome segregation. Therefore, cells normally possess multiple mechanisms for the prevention of errors in kinetochore-microtubule attachments and for selective stabilization of correct attachments. However, the oocyte, a cell that produces an egg through meiosis, exhibits a high frequency of errors in kinetochore-microtubule attachments. These attachment errors predispose oocytes to chromosome segregation errors, resulting in aneuploidy in eggs...
January 10, 2018: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#6
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29315303/genome-wide-comparison-of-ethiopian-leishmania-donovani-strains-reveals-differences-potentially-related-to-parasite-survival
#7
Arie Zackay, James A Cotton, Mandy Sanders, Asrat Hailu, Abedelmajeed Nasereddin, Alon Warburg, Charles L Jaffe
Leishmania donovani is the main cause of visceral leishmaniasis (VL) in East Africa. Differences between northern Ethiopia/Sudan (NE) and southern Ethiopia (SE) in ecology, vectors, and patient sensitivity to drug treatment have been described, however the relationship between differences in parasite genotype between these two foci and phenotype is unknown. Whole genomic sequencing (WGS) was carried out for 41 L. donovani strains and clones from VL and VL/HIV co-infected patients in NE (n = 28) and SE (n = 13)...
January 9, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#8
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29308088/distinct-subtypes-of-genomic-pten-deletion-size-influence-the-landscape-of-aneuploidy-and-outcome-in-prostate-cancer
#9
Thiago Vidotto, Daniel Guimarães Tiezzi, Jeremy A Squire
Background: Inactivation of the PTEN tumor suppressor gene by deletion occurs in 20-30% of prostate cancer tumors and loss strongly correlates with a worse outcome. PTEN loss of function not only leads to activation of the PI3K/AKT pathway, but is also thought to affect genome stability and increase levels of tumor aneuploidy. We performed an in silico integrative genomic and transcriptomic analysis of 491 TCGA prostate cancer tumors. These data were used to map the genomic sizes of PTEN gene deletions and to characterize levels of instability and patterns of aneuploidy acquisition...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29307391/variables-associated-with-mitochondrial-copy-number-in-human-blastocysts-what-can-we-learn-from-trophectoderm-biopsies
#10
Maria José de Los Santos, Antonio Diez Juan, Amparo Mifsud, Amparo Mercader, Marcos Meseguer, Carmen Rubio, Antonio Pellicer
OBJECTIVE: To study the potential variables that affect the mitochondrial DNA (mtDNA) content of trophectoderm (TE) cells in blastocysts that have undergone TE biopsy. DESIGN: Observational retrospective single-center analysis. SETTING: University-affiliated private in vitro fertilization center. PATIENT(S): A total of 465 consecutive preimplantation genetic screening (PGS) cycles of 402 women undergoing preimplantation genetic testing...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#11
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29303233/high-percentages-of-embryos-with-21-18-or-13-trisomy-are-related-to-advanced-paternal-age-in-donor-egg-cycles
#12
Javier García-Ferreyra, Roly Hilario, Julio Dueñas
OBJECTIVE: Advanced paternal age is related to poor sperm quality; however, little is known on its effect on aneuploidy embryo rates and, more importantly, on chromosomal abnormalities like trisomy 21, 18 and 13. The objective of this study was to evaluate the effect of advanced paternal age on the trisomy rates of the chromosomes 21, 18 or 13 in embryos obtained from donated oocytes. METHODS: A total of 378 embryos, obtained from 52 IVF/ICSI cycles with donated oocytes in conjunction with PGD, were allocated according to paternal age in three groups: Group A: ≤39 years (n=115 embryos), Group B: 40-49 years (n=157 embryos) and Group C: ≥50 year (n=106 embryos)...
January 5, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29298424/an-aneuploidy-free-and-structurally-defined-balancer-chromosome-toolkit-for-caenorhabditis-elegans
#13
Katsufumi Dejima, Sayaka Hori, Satoru Iwata, Yuji Suehiro, Sawako Yoshina, Tomoko Motohashi, Shohei Mitani
Balancer chromosomes are critical tools for genetic research. In C. elegans, reciprocal translocations that lead to aneuploidy have been widely used to maintain lethal and sterile mutations in stable stocks. Here, we generated a set of aneuploidy-free and structurally defined crossover suppressors that contain two overlapping inversions using the CRISPR/Cas9 system. The toolkit includes 13 crossover suppressors and covers approximately 63% of all C. elegans coding genes. Together with the classical intrachromosomal crossover suppressors, the system now covers 89% of the coding genes...
January 2, 2018: Cell Reports
https://www.readbyqxmd.com/read/29297505/determinants-and-clinical-implications-of-chromosomal-instability-in-cancer
#14
REVIEW
Laurent Sansregret, Bart Vanhaesebroeck, Charles Swanton
Aberrant chromosomal architecture, ranging from small insertions or deletions to large chromosomal alterations, is one of the most common characteristics of cancer genomes. Chromosomal instability (CIN) underpins much of the intratumoural heterogeneity observed in cancers and drives phenotypic adaptation during tumour evolution. Thus, an urgent need exists to increase our efforts to target CIN as if it were a molecular entity. Indeed, CIN accelerates the development of anticancer drug resistance, often leading to treatment failure and disease recurrence, which limit the effectiveness of most current therapies...
January 3, 2018: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/29297284/automated-classification-and-characterization-of-the-mitotic-spindle-following-knockdown-of-a-mitosis-related-protein
#15
Matloob Khushi, Imraan M Dean, Erdahl T Teber, Megan Chircop, Jonathan W Arthur, Neftali Flores-Rodriguez
BACKGROUND: Cell division (mitosis) results in the equal segregation of chromosomes between two daughter cells. The mitotic spindle plays a pivotal role in chromosome alignment and segregation during metaphase and anaphase. Structural or functional errors of this spindle can cause aneuploidy, a hallmark of many cancers. To investigate if a given protein associates with the mitotic spindle and regulates its assembly, stability, or function, fluorescence microscopy can be performed to determine if disruption of that protein induces phenotypes indicative of spindle dysfunction...
December 28, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29296790/maternal-iamp21-acute-lymphoblastic-leukemia-detected-on-prenatal-cell-free-dna-genetic-screening
#16
Marlise R Luskin, Marie N Discenza, Sarah Rae Easter, Paola Dal Cin, Renius Owen, Bernard Ilagan, Meredith Masiello, Andrew A Lane
cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy.Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.
August 22, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295942/gene-duplication-and-aneuploidy-trigger-rapid-evolution-of-herbicide-resistance-in-common-waterhemp
#17
Dal-Hoe Koo, Mithila Jugulam, Karthik Putta, Ivan B Cuvaca, Dallas Peterson, Randall S Currie, Bernd Friebe, Bikram S Gill
An increase in gene copy number is often associated with changes in the number and structure of chromosomes, as has been widely observed in yeast and eukaryotic tumors, yet little is known about stress-induced chromosomal changes in plants. Previously, we reported that the EPSPS (5-enolpyruvylshikimate-3-phosphate synthase) gene, the molecular target of glyphosate, was amplified at the native locus and on an extra chromosome in glyphosate-resistant Amaranthus tuberculatus. Here we report that the extra chromosome is a ring chromosome termed Extra Circular Chromosome carrying Amplified EPSPS (ECCAE)...
January 2, 2018: Plant Physiology
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#18
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29285243/high-visceral-fat-percentage-is-associated-with-poor-outcome-in-endometrial-cancer
#19
Karen Klepsland Mauland, Øyvin Eng, Sigmund Ytre-Hauge, Ingvild L Tangen, Anna Berg, Helga B Salvesen, Øyvind O Salvesen, Camilla Krakstad, Jone Trovik, Erling A Hoivik, Henrica Maria Johanna Werner, Gunnar Mellgren, Ingfrid S Haldorsen
Despite evidence of increased endometrial cancer (EC) risk in obese women, the impact of obesity on clinical and histological phenotype is poorly understood. This study explored abdominal fat volumes and fat distribution quantified by computed tomography (CT), in relation to tumor characteristics and outcome. 227 EC patients with preoperative abdominal CT scans were included. Total abdominal fat volume (TAV), subcutaneous abdominal fat volume (SAV) and visceral abdominal fat volume (VAV) were quantified, and visceral fat percentage calculated (VAV%=[VAV/TAV]x100)...
December 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/29282277/mitotic-defects-lead-to-neuronal-aneuploidy-and-apoptosis-in-frontotemporal-lobar-degeneration-caused-by-mapt-mutations
#20
Julbert Caneus, Antoneta Granic, Rosa Rademakers, Dennis W Dickson, Christina M Coughlan, Heidi J Chial, Huntington Potter
Mutant Tau (MAPT) can lead to frontotemporal lobar degeneration (FTLD). Previous studies associated MAPT mutations and altered function with aneuploidy and chromosome instability in human lymphocytes and in Drosophila development. Here, we examine whether FTLD-causing mutations in human MAPT induce aneuploidy and apoptosis in the mammalian brain. First, aneuploidy was found in brain cells from MAPT mutant transgenic mice expressing FTLD mutant human MAPT. Then, brain neurons from mice homozygous or heterozygous for the Tau (Mapt) null allele were found to exhibit increasing levels of aneuploidy with decreasing Tau gene dosage...
December 27, 2017: Molecular Biology of the Cell
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