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chromosomal abnormalities in human development

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https://www.readbyqxmd.com/read/27891448/can-feulgen-stain-be-a-reliable-biomarker-over-pap-stain-for-estimation-of-micronuclei-score
#1
Manish Kumar, Umesh Chandra Prasad, Betina Chandolia, S M Manjunath, Shiva Basu, Silvie Verma
INTRODUCTION: Malignant transformation of the Potentially Malignant Lesions (PML) in the oral cavity is associated with elevated mortality rate because of its aggressive and exceedingly invasive nature. Meticulous diagnosis and prompt therapy of PML may help prevent malignant conversion in oral lesions. Carcinogenic insult to oral cells results in chromosomal damage and formation of Micronuclei (Mn), before the development of clinical symptoms. AIM: To determine the genotoxic effect of smoking and chewing tobacco on target tissue using Mn assay and to evaluate the prevalence of other nuclear anomalies associated with it and to determine the reliability of feulgen stain for Mn assay over Papaincolau (PAP) stain...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27858334/identification-of-medaka-magnetoreceptor-and-cryptochromes
#2
Yunzhi Wang, Jianbin Chen, Feng Zhu, Yunhan Hong
Magnetoreception is a hallmark ability of animals for orientation and migration via sensing and utilizing geomagnetic fields. Magnetoreceptor (MagR) and cryptochromes (Cry) have recently been identified as the basis for magnetoreception in Drosophila. However, it has remained unknown whether MagR and Cry have conserved roles in diverse animals. Here we report the identification and expression of magr and cry genes in the fish medaka (Oryzias latipes). Cloning and sequencing identified a single magr gene, four cry genes and one cry-like gene in medaka...
November 17, 2016: Science China. Life Sciences
https://www.readbyqxmd.com/read/27855520/novel-technologies-emerging-for-preimplantation-genetic-diagnosis-and-preimplantation-genetic-testing-for-aneuploidy
#3
Karen Sermon
Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer...
December 1, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27837557/biobanking-of-human-mesenchymal-stem-cells-future-strategy-to-facilitate-clinical-applications
#4
Kar Wey Yong, Jane Ru Choi, Wan Kamarul Zaman Wan Safwani
Human mesenchymal stem cells (hMSCs), a type of adult stem cells that hold great potential in clinical applications (e.g., regenerative medicine and cell-based therapy) due to their ability to differentiate into multiple types of specialized cells and secrete soluble factors which can initiate tissue repair and regulate immune response. hMSCs need to be expanded in vitro or cryopreserved to obtain sufficient cell numbers required for clinical applications. However, long-term in vitro culture-expanded hMSCs may raise some biosafety concerns (e...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27832139/a-subpopulation-of-the-k562-cells-are-killed-by-curcumin-treatment-after-g2-m-arrest-and-mitotic-catastrophe
#5
Macario Martinez-Castillo, Raul Bonilla-Moreno, Leticia Aleman-Lazarini, Marco Antonio Meraz-Rios, Lorena Orozco, Leticia Cedillo-Barron, Emilio J Cordova, Nicolas Villegas-Sepulveda
Curcumin is extensively investigated as a good chemo-preventive agent in the development of many cancers and particularly in leukemia, including treatment of chronic myelogenous leukemia and it has been proposed as an adjuvant for leukemia therapies. Human chronic myeloid leukemia cells (K562), were treated with 20 μM of curcumin, and we found that a subpopulation of these cells were arrested and accumulate in the G2/M phase of the cell cycle. Characterization of this cell subpopulation showed that the arrested cells presented nuclear morphology changes resembling those described for mitotic catastrophe...
2016: PloS One
https://www.readbyqxmd.com/read/27821557/telomeres-reproductive-aging-and-genomic-instability-during-early-development
#6
David L Keefe
Implantation rate decreases and miscarriage rate increases with advancing maternal age. The oocyte must be the locus of reproductive aging because donation of oocytes from younger to older women abrogates the effects of aging on fecundity. Nuclear transfer experiments in a mouse model of reproductive aging show that the reproductive aging phenotype segregates with the nucleus rather than the cytoplasm. A number of factors within the nucleus have been hypothesized to mediate reproductive aging, including disruption of cohesions, reduced chiasma, aneuploidy, disrupted meiotic spindles, and DNA damage caused by chronic exposure to reactive oxygen species...
December 2016: Reproductive Sciences
https://www.readbyqxmd.com/read/27816329/a-complex-interplay-of-genetic-and-epigenetic-events-leads-to-abnormal-expression-of-the-dux4-gene-in-facioscapulohumeral-muscular-dystrophy
#7
REVIEW
Laura Virginia Gatica, Alberto Luis Rosa
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral number of 3.3 Kb (D4Z4) repeated elements at the chromosomal region 4q35, (2) a specific 4q35 subtelomeric haplotype denominated 4qA, and (3) decreased methylation of cytosines at the 4q35-linked D4Z4 units. FSHD2 is most often caused by mutations at the SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain 1) gene, on chromosome 18p11...
September 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27793086/sex-linked-markers-in-the-north-american-green-frog-rana-clamitans-developed-using-dartseq-provide-early-insight-into-sex-chromosome-evolution
#8
Max R Lambert, David K Skelly, Tariq Ezaz
BACKGROUND: The extent to which sex reversal is associated with transitions in sex determining systems (XX-XY, ZZ-ZW, etc.) or abnormal sexual differentiation is predominantly unexplored in amphibians. This is in large part because most amphibian taxa have homomorphic sex chromosomes, which has traditionally made it challenging to identify discordance between phenotypic and genetic sex in amphibians, despite all amphibians having a genetic component to sex determination. Recent advances in molecular techniques such as genome complexity reduction and high throughput sequencing present a valuable avenue for furthering our understanding of sex determination in amphibians and other taxa with homomorphic sex chromosomes like many fish and reptiles...
October 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27790464/cytogenetic-analysis-for-suspected-chromosomal-abnormalities-a-five-years-experience
#9
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27786181/lessons-learned-from-studying-syndromic-autism-spectrum-disorders
#10
REVIEW
Yehezkel Sztainberg, Huda Y Zoghbi
Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention...
October 26, 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27773484/mechanisms-of-aneuploidy-in-human-eggs
#11
Alexandre Webster, Melina Schuh
Eggs and sperm develop through a specialized cell division called meiosis. During meiosis, the number of chromosomes is reduced by two sequential divisions in preparation for fertilization. In human female meiosis, chromosomes frequently segregate incorrectly, resulting in eggs with an abnormal number of chromosomes. When fertilized, these eggs give rise to aneuploid embryos that usually fail to develop. As women become older, errors in meiosis occur more frequently, resulting in increased risks of infertility, miscarriage, and congenital syndromes, such as Down's syndrome...
September 27, 2016: Trends in Cell Biology
https://www.readbyqxmd.com/read/27757173/methylome-analysis-for-spina-bifida-shows-sox18-hypomethylation-as-a-risk-factor-with-evidence-for-a-complex-epi-genetic-interplay-to-affect-neural-tube-development
#12
Anne Rochtus, Raf Winand, Griet Laenen, Elise Vangeel, Benedetta Izzi, Christine Wittevrongel, Yves Moreau, Carla Verpoorten, Katrien Jansen, Chris Van Geet, Kathleen Freson
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations that arise from failure of neurulation during early embryonic development. The molecular basis underlying most human NTDs still remains largely unknown. Based on the hypothesis that folic acid prevents NTDs by stimulating methylation reactions, DNA methylation changes could play a role in NTDs. We performed a methylome analysis for patients with myelomeningocele (MMC). Using a candidate CpG analysis for HOX genes, a significant association between HOXB7 hypomethylation and MMC was found...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27743290/the-combination-of-calcium-ionophore-a23187-and-gm-csf-can-safely-salvage-aged-human-unfertilized-oocytes-after-icsi
#13
Konstantinos A Economou, Dimitra Christopikou, Erika Tsorva, Stephen Davies, Minas Mastrominas, Haris Cazlaris, Michael Koutsilieris, Panagoula Angelogianni, Dimitris Loutradis
PURPOSE: Artificial oocyte activation using calcium ionophores and enhancement of embryonic developmental potential by the granulocyte-macrophage colony-stimulating factor (GM-CSF) have already been reported. In this study, we evaluated the synergistic effect of these two methods on aged human unfertilized oocytes after intracytoplasmic sperm injection (ICSI). Then, we cultured the resulting embryos to the blastocyst stage and screened them for chromosomal abnormalities, to assess the safety of this protocol...
October 14, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27713168/the-aurora-kinase-a-inhibitor-tc-a2317-disrupts-mitotic-progression-and-inhibits-cancer-cell-proliferation
#14
Yoo Hong Min, Wootae Kim, Ja-Eun Kim
Mitotic progression is crucial for the maintenance of chromosomal stability. A proper progression is ensured by the activities of multiple kinases. One of these enzymes, the serine/threonine kinase Aurora A, is required for proper mitosis through the regulation of centrosome and spindle assembly. In this study, we functionally characterized a newly developed Aurora kinase A inhibitor, TC-A2317. In human lung cancer cells, TC-A2317 slowed proliferation by causing aberrant formation of centrosome and microtubule spindles and prolonging the duration of mitosis...
October 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27683878/transcriptional-fingerprint-of-hypomyelination-in-zfp191null-and-shiverer-mbpshi-mice
#15
Joshua D Aaker, Benayahu Elbaz, Yuwen Wu, Timothy J Looney, Li Zhang, Bruce T Lahn, Brian Popko
The transcriptional program that controls oligodendrocyte maturation and central nervous system (CNS) myelination has not been fully characterized. In this study, we use high-throughput RNA sequencing to analyze how the loss of a key transcription factor, zinc finger protein 191 (ZFP191), results in oligodendrocyte development abnormalities and CNS hypomyelination. Using a previously described mutant mouse that is deficient in ZFP191 protein expression (Zfp191(null)), we demonstrate that key transcripts are reduced in the whole brain as well as within oligodendrocyte lineage cells cultured in vitro To determine whether the loss of myelin seen in Zfp191(null) mice contributes indirectly to these perturbations, we also examined the transcriptome of a well-characterized mouse model of hypomyelination, in which the myelin structural protein myelin basic protein (MBP) is deficient...
October 2016: ASN Neuro
https://www.readbyqxmd.com/read/27603913/cancer-testis-antigens-expression-regulation-tumor-invasion-and-use-in-immunotherapy-of-cancers
#16
Arash Salmaninejad, Mohammad Reza Zamani, Mehrnaz Pourvahedi, Zahra Golchehre, Ali Hosseini Bereshneh, Nima Rezaei
UNLABELLED: Cancer/testis antigens (CTAs) are named based on their expression pattern that is restricted in a number of normal and abnormal tissues. Tumor cells frequently express antigens whose expression is typically restricted to germ cells. Their unique expression pattern is guaranteed by precise epigenetic regulatory mechanisms. Because of their tumor-limited, high immunogenicity, and biased expression, discovery of these molecules provides unprecedented opportunities for further research and clinical development in the field of cancer diagnosis and immunotherapy...
October 2016: Immunological Investigations
https://www.readbyqxmd.com/read/27585592/loss-of-the-sumo-protease-ulp2-triggers-a-specific-multichromosome-aneuploidy
#17
Hong-Yeoul Ryu, Nicole R Wilson, Sameet Mehta, Soo Seok Hwang, Mark Hochstrasser
Post-translational protein modification by the small ubiquitin-related modifier (SUMO) regulates numerous cellular pathways, including transcription, cell division, and genome maintenance. The SUMO protease Ulp2 modulates many of these SUMO-dependent processes in budding yeast. From whole-genome RNA sequencing (RNA-seq), we unexpectedly discovered that cells lacking Ulp2 display a twofold increase in transcript levels across two particular chromosomes: chromosome I (ChrI) and ChrXII. This is due to the two chromosomes being present at twice their normal copy number...
August 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27581135/induction-of-chronic-myeloid-leukemia-in-mice
#18
Haojian Zhang, Shaoguang Li
Chronic myeloid leukemia (CML) is a myeloproliferative disorder derived from a hematopoietic stem cell (HSC), harboring Philadelphia chromosome (Ph chromosome). Formation of the Ph chromosome is caused by a reciprocal translocation between the chromosomes 9 and 22 t(9;22)(q34;q11), resulting in a fusion protein known as BCR-ABL which has constitutive tyrosine kinase activity and promotes the proliferation of leukemia cells via multiple mechanisms. Studies on CML have led to the identification of the first cancer-associated chromosomal abnormality and the subsequent development of tyrosine kinase inhibitors (TKIs) that inhibit BCR-ABL kinase activity in CML...
2016: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27552964/chromosomal-abnormalities-in-hepatic-cysts-point-to-novel-polycystic-liver-disease-genes
#19
Edgar S Wills, Wybrich R Cnossen, Joris A Veltman, Rob Woestenenk, Marloes Steehouwer, Jody Salomon, René H M Te Morsche, Meritxell Huch, Jayne Y Hehir-Kwa, Martijn J Banning, Rolph Pfundt, Ronald Roepman, Alexander Hoischen, Joost P H Drenth
Autosomal dominant polycystic liver disease (ADPLD) is caused by variants in PRKCSH, SEC63, and LRP5, whereas autosomal dominant polycystic kidney disease is caused by variants in PKD1 and PKD2. Liver cyst development in these disorders is explained by somatic loss-of-heterozygosity (LOH) of the wild-type allele in the developing cyst. We hypothesize that we can use this mechanism to identify novel disease genes that reside in LOH regions. In this study, we aim to map abnormal genomic regions using high-density SNP microarrays to find novel PLD genes...
August 24, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27550220/congenital-heart-defects-and-left-ventricular-non-compaction-in-males-with-loss-of-function-variants-in-nono
#20
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun Wong, Sandra A Darilek, Amy M Breman, Yaping Yang, James R Lupski, Amyn K Jiwani, Bibhuti Das, Seema R Lalani, Alejandro D Iglesias, Jill A Rosenfeld, Fan Xia
BACKGROUND: The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have been described as a cause of intellectual disability in males but have not been described in association with congenital heart defects or cardiomyopathy. In this article, we seek to further define the phenotypic consequences of NONO depletion in human subjects...
August 22, 2016: Journal of Medical Genetics
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