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Aneuploidy

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https://www.readbyqxmd.com/read/28816574/sgt1-hsp90-complex-is-required-for-cenp-a-deposition-at-centromeres
#1
Yohei Niikura, Risa Kitagawa, Hiroo Ogi, Katsumi Kitagawa
The centromere plays an essential role in accurate chromosome segregation, and defects in its function lead to aneuploidy and thus cancer. The centromere-specific histone H3 variant CENP-A is proposed to be the epigenetic mark of the centromere, as active centromeres require CENP-A-containing nucleosomes to direct the recruitment of multiple kinetochore proteins. CENP-A K124 ubiquitylation, mediated by CUL4A-RBX1-COPS8 E3 ligase activity, is required for CENP-A deposition at the centromere. However, the mechanism that controls the E3 ligase activity of the CUL4A-RBX1-COPS8 complex remains obscure...
August 17, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28814753/the-psi-yeast-prion-does-not-wildly-affect-proteome-composition-whereas-selective-pressure-exerted-on-psi-cells-can-promote-aneuploidy
#2
Patrick H W Chan, Lisa Lee, Erin Kim, Tony Hui, Nikolay Stoynov, Roy Nassar, Michelle Moksa, Dale M Cameron, Martin Hirst, Joerg Gsponer, Thibault Mayor
The yeast Sup35 protein is a subunit of the translation termination factor, and its conversion to the [PSI (+)] prion state leads to more translational read-through. Although extensive studies have been done on [PSI (+)], changes at the proteomic level have not been performed exhaustively. We therefore used a SILAC-based quantitative mass spectrometry approach and identified 4187 proteins from both [psi (-)] and [PSI (+)] strains. Surprisingly, there was very little difference between the two proteomes under standard growth conditions...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808688/adaptive-mistranslation-accelerates-the-evolution-of-fluconazole-resistance-and-induces-major-genomic-and-gene-expression-alterations-in-candida-albicans
#3
Tobias Weil, Rodrigo Santamaría, Wanseon Lee, Johan Rung, Noemi Tocci, Darren Abbey, Ana R Bezerra, Laura Carreto, Gabriela R Moura, Mónica Bayés, Ivo G Gut, Attila Csikasz-Nagy, Duccio Cavalieri, Judith Berman, Manuel A S Santos
Regulated erroneous protein translation (adaptive mistranslation) increases proteome diversity and produces advantageous phenotypic variability in the human pathogen Candida albicans. It also increases fitness in the presence of fluconazole, but the underlying molecular mechanism is not understood. To address this question, we evolved hypermistranslating and wild-type strains in the absence and presence of fluconazole and compared their fluconazole tolerance and resistance trajectories during evolution. The data show that mistranslation increases tolerance and accelerates the acquisition of resistance to fluconazole...
July 2017: MSphere
https://www.readbyqxmd.com/read/28808015/a-p53-dependent-response-limits-the-viability-of-mammalian-haploid-cells
#4
Teresa Olbrich, Cristina Mayor-Ruiz, Maria Vega-Sendino, Carmen Gomez, Sagrario Ortega, Sergio Ruiz, Oscar Fernandez-Capetillo
The recent development of haploid cell lines has facilitated forward genetic screenings in mammalian cells. These lines include near-haploid human cell lines isolated from a patient with chronic myelogenous leukemia (KBM7 and HAP1), as well as haploid embryonic stem cells derived from several organisms. In all cases, haploidy was shown to be an unstable state, so that cultures of mammalian haploid cells rapidly become enriched in diploids. Here we show that the observed diploidization is due to a proliferative disadvantage of haploid cells compared with diploid cells...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807937/hnf1b-loss-exacerbates-the-development-of-chromophobe-renal-cell-carcinomas
#5
Eric Jonasch, Mianen Sun, Pan Tong, Wen Kong, Baijun Dong, Yiran Huang, In Young Park, Lijun Zhou, Xian-De Liu, Zhiyong Ding, Xuesong Zhang, Shanshan Bai, Peter German, Reid Powell, Quan Wang, Xuefei Tong, Nizar M Tannir, Surena F Matin, W Kimryn Rathmell, Gregory N Fuller, Ian E McCutcheon, Cheryl Lyn Walker, Jing Wang
Chromophobe renal cell carcinoma (ChRCC) is characterized by major changes in chromosomal copy number (CN). No model is available to precisely elucidate the molecular drivers of this tumor type. HNF1B is a master regulator of gene expression. Here we report that the transcription factor HNF1B is downregulated in the majority of ChRCC and that the magnitude of HNF1B loss is unique to ChRCC. We also observed a strong correlation between reduced HNF1B expression and aneuploidy in ChRCC patients. In murine embryonic fibroblasts or ACHN cells, HNF1B deficiency reduced expression of the spindle checkpoint proteins MAD2L1 and BUB1B, and the cell cycle checkpoint proteins RB1 and p27...
August 14, 2017: Cancer Research
https://www.readbyqxmd.com/read/28807814/development-of-a-chromosomal-microarray-test-for-the-detection-of-abnormalities-in-formalin-fixed-paraffin-embedded-products-of-conception-specimens
#6
Troy J Gliem, Umut Aypar
Testing the products of conception (POC) provides information regarding the cause of fetal loss, and helps determine the recurrence risk for future losses and chromosome abnormalities in subsequent pregnancies. Historically, the Mayo Clinic Cytogenetics Laboratory performed targeted fluorescent in situ hybridization (FISH) testing to identify aneuploidy of only certain chromosomes in formalin-fixed, paraffin-embedded (FFPE) POC samples. Chromosomal microarray (CMA) studies utilizing the Affymetrix OncoScan™ FFPE Assay can detect copy number changes across the genome...
August 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28805610/validation-of-a-high-throughput-and-robust-technique-bacs-on-beads-assay-karyolite-bobs-for-pre-implantation-aneuploidy-screening
#7
Grace Wing Shan Kong, Yanlin Ma, Jian Ou, Yvonne Ka Yin Kwok, Wei Wang, Queenie Sum Yee Yeung, Cherry Kit Man Wong, Qi Li, Wen Xu, Weiying Lu, Hong Li, Tin Chiu Li, Kwong Wai Choy
OBJECTIVE: This study aims to validate the BACs-on-Beads (BoB) technology as a robust and high throughput method for pre-implantation genetic screening (PGS) for aneuploidy. MATERIAL AND METHODS: The performances with respect to the sensitivity, specificity, success rate and detection rate of this technique from new BoBs technology and traditional array chromosomal genomic hybridization (aCGH) were compared. And the use of BoBs as a screening tool for euploid embryos in PGS was evaluated...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28804563/count-based-size-correction-analysis-of-maternal-plasma-dna-for-improved-noninvasive-prenatal-detection-of-fetal-trisomies-13-18-and-21
#8
Li Zhang, Qian Zhu, He Wang, Shanling Liu
PURPOSE: Our goal was to derive more sensitive and accurate Z-scores based on combined DNA count- and size-based algorithms to advance molecular diagnostics for noninvasive prenatal testing of fetal trisomies. METHODS: We included 180 cases at high risk for fetal aneuploidy who underwent amniotic fluid cytogenetic analysis. We calculated their traditional count-based Z-scores, as well as their 100-, 130- and 150-, and 166-bp size-corrected Z-scores, and determined each Z-score's reliability based on its comparison to the cases' cytogenetic results...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28802704/early-miscarriage-rate-in-lean-polycystic-ovary-syndrome-women-after-euploid-embryo-transfer-a-matched-pair-study
#9
Lu Luo, Fang Gu, Huying Jie, Chenhui Ding, Qiang Zhao, Qiong Wang, Canquan Zhou
The early miscarriage rate is reported to be higher in patients with polycystic ovary syndrome (PCOS) compared with non-PCOS patients. However, whether PCOS is an independent risk factor for early miscarriage is still controversial; to what extent embryonic aneuploidy accounts for miscarriages of PCOS is still unknown. In this 1:3 matched-pair study, 67 lean PCOS patients and 201 controls matched for age, body mass index (BMI) and embryo scores undergoing a single euploid blastocyst transfer in vitrified-warmed cycles were analysed...
July 29, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#10
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28800914/aneuploidy-police-detect-chromosomal-imbalance-triggering-immune-crackdown
#11
Emma V Watson, Stephen J Elledge
Aneuploidy is ubiquitous in cancer and plays a pivotal, early role in tumor evolution. It must therefore be avoided, and two recent papers highlight the roles of p53, senescence, and the immune system in preventing the outgrowth of aneuploid clones in tissue culture. These mechanisms are likely to synergize to maintain diploid cell populations.
August 8, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#12
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794690/gender-related-prognostic-significance-of-clinical-and-biological-tumor-features-in-rectal-cancer-patients-receiving-short-course-preoperative-radiotherapy
#13
Anna Gasinska, Zbigniew Darasz, Agnieszka Adamczyk, Beata Biesaga, Joanna Niemiec, Marian Reinfuss
AIM: To study the prognostic value of clinical and biological features of rectal cancer and potential gender differences in patients' overall survival (OS), local recurrence-free survival (RFS) and metastasis-free survival (MFS) after short-course preoperative radiotherapy (SCRT) with short or long interval between RT and surgery (break). BACKGROUND: The length of the interval between RT and surgery in SCRT is debatable and gender-related differences in patients survival are not established yet...
September 2017: Reports of Practical Oncology and Radiotherapy
https://www.readbyqxmd.com/read/28792998/validation-of-qf-pcr-for-prenatal-diagnoses-in-a-brazilian-population
#14
Renata Wendel de Moraes, Mario Henrique Burlacchini de Carvalho, Antonio Gomes de Amorim-Filho, Rossana Pulcineli Vieira Francisco, Renata Moscolini Romão, José Eduardo Levi, Marcelo Zugaib
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes...
July 2017: Clinics
https://www.readbyqxmd.com/read/28782444/prenatal-abnormal-width-of-the-cavum-septum-pellucidum-mri-features-and-neurodevelopmental-outcome
#15
Shiri Cooper, Eldad Katorza, Michal Berkenstadt, Chen Hoffmann, Reuven Achiron, Omer Bar-Yosef
PURPOSE: To describe the morphological characteristics of fetal MRIs and outcome of prenatally-detected abnormal width of the CSP (cavum septum pellucidum). MATERIAL AND METHODS: A retrospective study of cases with abnormal width of the CSP demonstrated prenatally on MRI. Data collected included: prenatal history, MRI features, sonographic follow up, and neurodevelopmental outcome. RESULTS: Most of the cases referred (34/39) had an abnormal CSP on MRI...
August 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28777855/-application-of-bacs-on-beads-and-karyotyping-for-the-prenatal-diagnosis-of-1371-pregnant-women-with-a-high-risk
#16
Penglong Chen, Chunlei Jin, Qunda Shan, Bixia Qian, Xiaohong Zheng, Xiaohong Wang, Yi Wang
OBJECTIVE: To assess the value of combined BACs-on-Beads(TM) (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy. METHODS: For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples. RESULTS: In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28775166/aneuploid-cell-survival-relies-upon-sphingolipid-homeostasis
#17
Yun-Chi Tang, Hui Yuwen, Kaiying Wang, Peter M Bruno, Kevin Bullock, Amy A Deik, Stefano Santaguida, Marianna Trakala, Sarah J Pfau, Na Zhong, Tao Huang, Lan Wang, Clary B Clish, Michael T Hemann, Angelika Amon
Aneuploidy, a hallmark of cancer cells, poses an appealing opportunity for cancer treatment and prevention strategies. Using a cell-based screen to identify small molecules that could selectively kill aneuploid cells, we identified the compound N-[2-hydroxy-1-(4-morpholinylmethyl)-2-phenylethyl]-decanamide monohydrochloride (DL-PDMP), an antagonist of UDP-glucose ceramide glucosyltransferase. DL-PDMP selectively inhibited proliferation of aneuploid primary mouse embryonic fibroblasts and aneuploid colorectal cancer cells...
August 3, 2017: Cancer Research
https://www.readbyqxmd.com/read/28770003/formation-of-upd-7-mat-by-trisomic-rescue-snp-array-typing-provides-new-insights-in-chromosomal-nondisjunction
#18
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
BACKGROUND: Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28766502/transient-neonatal-diabetes-due-to-a-mutation-in-kcnj11-in-a-child-with-klinefelter-syndrome
#19
Amanda Dahl, Radhika Dhamija, Alaa Al Nofal, Siobhan Pittock, Frederick Schwenk, Seema Kumar
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78 day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28763871/-the-function-of-aurora-a-and-its-role-in-the-development-of-liver-cancer
#20
M Li, Z G Ren
Aurora A plays a key role in cellular mitosis. It is located in the centrosome and spindle, and is mainly involved in the processes of centrosome maturation and separation, bipolar spindle assembly, and the regulation of mitotic progression. Recent studies have suggested that Aurora A is involved in tumorigenesis and tumor development through multiple mechanisms. Overexpression of Aurora A could cause abnormal centrosome amplification, aneuploidy formation, and G2/M checkpoint defects, which result in chromosome instability and imbalance between cell division and apoptosis, and eventually leads to abnormal cell proliferation...
June 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
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