当前位置： SCI文献检索 > Genes期刊下所有文献 > Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility.

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility.

Abstract：

:Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining followed by M-FISH (TC+M-FISH) for improved detection of telomere dysfunction and the identification of dicentric chromosomes in cancer patients and various genetic syndromes. Significant telomere length shortening and significantly higher frequencies of telomere loss and deletion were found in the peripheral lymphocytes of patients with cancer and genetic syndromes relative to similar age-matched healthy donors. We assessed our technique against conventional cytogenetics for the detection of dicentric chromosomes by subjecting metaphase preparations to both approaches. We identified dicentric chromosomes in 28/50 cancer patients and 21/44 genetic syndrome patients using our approach, but only 7/50 and 12/44, respectively, using standard cytogenetics. We ascribe this discrepancy to the identification of the unique configuration of dicentric chromosomes. We observed significantly higher frequencies of telomere loss and deletion in patients with dicentric chromosomes (p < 10-4). TC+M-FISH analysis is superior to classical cytogenetics for the detection of chromosomal instability. Our approach is a relatively simple but useful tool for documenting telomere dysfunction and chromosomal instability with the potential to become a standard additional diagnostic tool in medical genetics and the clinic.

journal_name

Genes (Basel)

journal_title

Genes

authors

M'kacher R,Colicchio B,Borie C,Junker S,Marquet V,Heidingsfelder L,Soehnlen K,Najar W,Hempel WM,Oudrhiri N,Wilhelm-Murer N,Miguet M,Arnoux M,Ferrapie C,Kerbrat W,Plesch A,Dieterlen A,Girinsky T,Voisin P,Deschenes G

doi

10.3390/genes11050475

subject

Has Abstract

pub_date

2020-04-27 00:00:00

issue

5

issn

2073-4425

pii

genes11050475

journal_volume

11

pub_type

杂志文章

相关文献

Genes文献大全
  • Genomic Characterization of a B Chromosome in Lake Malawi Cichlid Fishes.

    abstract：:B chromosomes (Bs) were discovered a century ago, and since then, most studies have focused on describing their distribution and abundance using traditional cytogenetics. Only recently have attempts been made to understand their structure and evolution at the level of DNA sequence. Many questions regarding the origin,...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9120610

    authors： Clark FE,Conte MA,Kocher TD

    更新日期：2018-12-05 00:00:00

  • Evolutionary Insights of the ZW Sex Chromosomesin Snakes: A New Chapter Added by the AmazonianPuffing Snakes of the Genus Spilotes.

    abstract：:Amazonian puffing snakes (Spilotes; Colubridae) are snakes widely distributed in the Neotropical region. However, chromosomal data are scarce in this group and, when available, are only limited to karyotype description using conventional staining. In this paper, we focused on the process of karyotype evolution and tre...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10040288

    authors： Viana PF,Ezaz T,de Bello Cioffi M,Jackson Almeida B,Feldberg E

    更新日期：2019-04-09 00:00:00

  • Pathogen Species Identification from Metagenomes in Ancient Remains: The Challenge of Identifying Human Pathogenic Species of Trypanosomatidae via Bioinformatic Tools.

    abstract：:Accurate species identification from ancient DNA samples is a difficult task that would shed light on the evolutionary history of pathogenic microorganisms. The field of palaeomicrobiology has undoubtedly benefited from the advent of untargeted metagenomic approaches that use next-generation sequencing methodologies. ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9080418

    authors： Sereno D,Dorkeld F,Akhoundi M,Perrin P

    更新日期：2018-08-20 00:00:00

  • Identification of Loci Controlling the Dwarfism Trait in the White Sailfin Molly (Poecilia latipinna) Using Genome-Wide Association Studies Based on Genotyping-By-Sequencing.

    abstract：:Dwarfism is a condition defined by low harvest weight in fish, but also results in strange body figures which may have potential for the selective breeding of new ornamental fish strains. The objectives of this study are to reveal the physiological causes of dwarfism and identify the genetic loci controlling this trai...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10060418

    authors： Shao F,Liu J,Ren M,Li J,Bao H,Wu C

    更新日期：2019-05-30 00:00:00

  • Erratum: Gu, S. et al. Error-Free Bypass of 7,8-dihydro-8-oxo-2'-deoxyguanosine by DNA Polymerase of Pseudomonas aeruginosa Phage PaP1. Genes 2017, 8, 18.

    abstract：:n/a. ...

    journal_title：Genes

    pub_type： 杂志文章,已发布勘误

    doi：10.3390/genes8030091

    authors： Gu S,Xue Q,Liu Q,Xiong M,Wang W,Zhang H

    更新日期：2017-03-03 00:00:00

  • Transcriptome Analysis of Two Rice Varieties Contrasting for Nitrogen Use Efficiency under Chronic N Starvation Reveals Differences in Chloroplast and Starch Metabolism-Related Genes.

    abstract：:The nitrogen use efficiency (NUE) of crop plants is limited and enhancing it in rice, a major cereal crop, would be beneficial for farmers and the environment alike. Here we report the genome-wide transcriptome analysis of two rice genotypes, IR 64 (IR64) and Nagina 22 (N22) under optimal (+N) and chronic starvation (...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040206

    authors： Sinha SK,Sevanthi V AM,Chaudhary S,Tyagi P,Venkadesan S,Rani M,Mandal PK

    更新日期：2018-04-11 00:00:00

  • Combining Random Forests and a Signal Detection Method Leads to the Robust Detection of Genotype-Phenotype Associations.

    abstract：:Genome wide association studies (GWAS) are a well established methodology to identify genomic variants and genes that are responsible for traits of interest in all branches of the life sciences. Despite the long time this methodology has had to mature the reliable detection of genotype-phenotype associations is still ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11080892

    authors： Ramzan F,Gültas M,Bertram H,Cavero D,Schmitt AO

    更新日期：2020-08-05 00:00:00

  • Exposure to Formaldehyde Perturbs the Mouse Gut Microbiome.

    abstract：:Exposure to Formaldehyde (FA) results in many pathophysiological symptoms, however the underlying mechanisms are not well understood. Given the complicated modulatory role of intestinal microbiota on human health, we hypothesized that interactions between FA and the gut microbiome may account for FA's toxicity. Balb/c...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040192

    authors： Guo J,Zhao Y,Jiang X,Li R,Xie H,Ge L,Xie B,Yang X,Zhang L

    更新日期：2018-04-03 00:00:00

  • Shedding the Light on Litopenaeus vannamei Differential Muscle and Hepatopancreas Immune Responses in White Spot Syndrome Virus (WSSV) Exposure.

    abstract：:White Spot Syndrome Virus (WSSV) is one of the main threats to farming Litopenaeus vannamei, the most important crustacean commercialized in aquaculture worldwide. Here, we performed RNA-seq analyses in hepatopancreas and muscle from WSSV-negative (healthy) and WSSV-positive (unhealthy) L. vannamei, previously exposed...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11070805

    authors： Santos CA,Andrade SCS,Fernandes JMO,Freitas PD

    更新日期：2020-07-16 00:00:00

  • Besides and Beyond Flowering: Other roles of EuAP2 Genes in Plant Development.

    abstract：:EuAP2 genes are well-known for their role in flower development, a legacy of the founding member of this subfamily of transcription factors, whose mutants lacked petals in Arabidopsis. However, studies of euAP2 genes in several species have accumulated evidence highlighting the diverse roles of euAP2 genes in other as...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes10120994

    authors： Solomon CU,Drea S

    更新日期：2019-12-01 00:00:00

  • Computational Strategies for Scalable Genomics Analysis.

    abstract：:The revolution in next-generation DNA sequencing technologies is leading to explosive data growth in genomics, posing a significant challenge to the computing infrastructure and software algorithms for genomics analysis. Various big data technologies have been explored to scale up/out current bioinformatics solutions ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10121017

    authors： Shi L,Wang Z

    更新日期：2019-12-06 00:00:00

  • Epitranscriptomic Signatures in lncRNAs and Their Possible Roles in Cancer.

    abstract：:In contrast to the amazing exponential growth in knowledge related to long non-coding RNAs (lncRNAs) involved in cell homeostasis or dysregulated pathological states, little is known so far about the links between the chemical modifications occurring in lncRNAs and their function. Generally, ncRNAs are post-transcript...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes10010052

    authors： Dinescu S,Ignat S,Lazar AD,Constantin C,Neagu M,Costache M

    更新日期：2019-01-16 00:00:00

  • Genome-Wide Identification of the Alba Gene Family in Plants and Stress-Responsive Expression of the Rice Alba Genes.

    abstract：:Architectural proteins play key roles in genome construction and regulate the expression of many genes, albeit the modulation of genome plasticity by these proteins is largely unknown. A critical screening of the architectural proteins in five crop species, viz., Oryza sativa, Zea mays, Sorghum bicolor, Cicer arietinu...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040183

    authors： Verma JK,Wardhan V,Singh D,Chakraborty S,Chakraborty N

    更新日期：2018-03-28 00:00:00

  • Protein Changes in Response to Lead Stress of Lead-Tolerant and Lead-Sensitive Industrial Hemp Using SWATH Technology.

    abstract：:Hemp is a Pb-tolerant and Pb-accumulating plant and the study of its tolerance mechanisms could facilitate the breeding of hemp with enhanced Pb tolerance and accumulation. In the present study, we took advantage of sequential window acquisition of all theoretical mass spectra (SWATH) technology to study the differenc...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10050396

    authors： Xia C,Hong L,Yang Y,Yanping X,Xing H,Gang D

    更新日期：2019-05-22 00:00:00

  • X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene.

    abstract：:A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The...

    journal_title：Genes

    pub_type：

    doi：10.3390/genes11101175

    authors： Brunetti B,Muscatello LV,Letko A,Papa V,Cenacchi G,Grillini M,Murgiano L,Jagannathan V,Drögemüller C

    更新日期：2020-10-08 00:00:00

  • Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.

    abstract：:Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in ALPK3. Genetic investigation was perfo...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11101201

    authors： Jorholt J,Formicheva Y,Vershinina T,Kiselev A,Muravyev A,Demchenko E,Fedotov P,Zlotina A,Rygkov A,Vasichkina E,Sejersen T,Kostareva A

    更新日期：2020-10-15 00:00:00

  • Genome Sequence of the Freshwater Yangtze Finless Porpoise.

    abstract：:The Yangtze finless porpoise (Neophocaena asiaeorientalis ssp. asiaeorientalis) is a subspecies of the narrow-ridged finless porpoise (N. asiaeorientalis). In total, 714.28 gigabases (Gb) of raw reads were generated by whole-genome sequencing of the Yangtze finless porpoise, using an Illumina HiSeq 2000 platform. Afte...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9040213

    authors： Yuan Y,Zhang P,Wang K,Liu M,Li J,Zheng J,Wang D,Xu W,Lin M,Dong L,Zhu C,Qiu Q,Li S

    更新日期：2018-04-16 00:00:00

  • Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.

    abstract：:Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients utilizing massively par...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10100735

    authors： Maekawa K,Nishio SY,Abe S,Goto SI,Honkura Y,Iwasaki S,Kanda Y,Kobayashi Y,Oka SI,Okami M,Oshikawa C,Sakuma N,Sano H,Shirakura M,Uehara N,Usami SI

    更新日期：2019-09-23 00:00:00

  • Molecular Cloning and Characterization of Three Glucosinolate Transporter (GTR) Genes from Chinese Kale.

    abstract：:Chinese kale is a native vegetable in Southern China and the flowering stalk is the most commonly used edible part due to its high glucosinolate content and other nutritional qualities. The GTR protein played important roles in the glucosinolate transport process. In this study, three BocGTR1 genes were cloned from Ch...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10030202

    authors： Jiang D,Lei J,Cao B,Wu S,Chen G,Chen C

    更新日期：2019-03-08 00:00:00

  • Slow Adaptive Response of Budding Yeast Cells to Stable Conditions of Continuous Culture Can Occur without Genome Modifications.

    abstract：:Continuous cultures assure the invariability of environmental conditions and the metabolic state of cultured microorganisms, whereas batch-cultured cells undergo constant changes in nutrients availability. For that reason, continuous culture is sometimes employed in the whole transcriptome, whole proteome, or whole me...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11121419

    authors： Klim J,Zielenkiewicz U,Kurlandzka A,Kaczanowski S,Skoneczny M

    更新日期：2020-11-27 00:00:00

  • Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism.

    abstract：:Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosom...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes10050379

    authors： Iourov IY,Vorsanova SG,Yurov YB,Kutsev SI

    更新日期：2019-05-19 00:00:00

  • Graph Algorithms for Mixture Interpretation.

    abstract：:The scale of genetic methods are presently being expanded: forensic genetic assays previously were limited to tens of loci, but now technologies allow for a transition to forensic genomic approaches that assess thousands to millions of loci. However, there are subtle distinctions between genetic assays and their genom...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes12020185

    authors： Crysup B,Woerner AE,King JL,Budowle B

    更新日期：2021-01-27 00:00:00

  • The Draft Genome of the Endangered Sichuan Partridge (Arborophila rufipectus) with Evolutionary Implications.

    abstract：:The Sichuan partridge (Arborophila rufipectus, Phasianidae, Galliformes) is distributed in south-west China, and classified as endangered grade. To examine the evolution and genomic features of Sichuan partridge, we de novo assembled the Sichuan partridge reference genome. The final draft assembly consisted of approxi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090677

    authors： Zhou C,Tu H,Yu H,Zheng S,Dai B,Price M,Wu Y,Yang N,Yue B,Meng Y

    更新日期：2019-09-05 00:00:00

  • Isolation and Characterization of Ftsz Genes in Cassava.

    abstract：:The filamenting temperature-sensitive Z proteins (FtsZs) play an important role in plastid division. In this study, three FtsZ genes were isolated from the cassava genome, and named MeFtsZ1, MeFtsZ2-1, and MeFtsZ2-2, respectively. Based on phylogeny, the MeFtsZs were classified into two groups (FtsZ1 and FtsZ2). MeFts...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8120391

    authors： Geng MT,Min Y,Yao Y,Chen X,Fan J,Yuan S,Wang L,Sun C,Zhang F,Shang L,Wang YL,Li RM,Fu SP,Duan RJ,Liu J,Hu XW,Guo JC

    更新日期：2017-12-15 00:00:00

  • Germline-Specific Repetitive Elements in Programmatically Eliminated Chromosomes of the Sea Lamprey (Petromyzon marinus).

    abstract：:The sea lamprey (Petromyzon marinus) is one of few vertebrate species known to reproducibly eliminate large fractions of its genome during normal embryonic development. This germline-specific DNA is lost in the form of large fragments, including entire chromosomes, and available evidence suggests that DNA elimination ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10100832

    authors： Timoshevskiy VA,Timoshevskaya NY,Smith JJ

    更新日期：2019-10-22 00:00:00

  • Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

    abstract：:We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257G>A, c.6083A>...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11090978

    authors： Zafar S,Shahzad M,Ishaq R,Yousaf A,Shaikh RS,Akram J,Ahmed ZM,Riazuddin S

    更新日期：2020-08-22 00:00:00

  • Cytogenetics in Arctica islandica (Bivalvia, Arctidae): the Longest Lived Non-Colonial Metazoan.

    abstract：:Due to its extraordinary longevity and wide distribution, the ocean quahog Arctica islandica has become an important species model in both aging and environmental change research. Notwithstanding that, most genetic studies on ocean quahogs have been focused on fishery related, phylogeographic and phylogenetic aspects ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9060299

    authors： García-Souto D,Pasantes JJ

    更新日期：2018-06-13 00:00:00

  • DNA Damage Repair System in Plants: A Worldwide Research Update.

    abstract：:Living organisms are usually exposed to various DNA damaging agents so the mechanisms to detect and repair diverse DNA lesions have developed in all organisms with the result of maintaining genome integrity. Defects in DNA repair machinery contribute to cancer, certain diseases, and aging. Therefore, conserving the ge...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes8110299

    authors： Gimenez E,Manzano-Agugliaro F

    更新日期：2017-10-30 00:00:00

  • Suppression of Notch Signaling Stimulates Progesterone Synthesis by Enhancing the Expression of NR5A2 and NR2F2 in Porcine Granulosa Cells.

    abstract：:The conserved Notch pathway is reported to be involved in progesterone synthesis and secretion; however, the exact effects remain controversial. To determine the role and potential mechanisms of the Notch signaling pathway in progesterone biosynthesis in porcine granulosa cells (pGCs), we first used a pharmacological ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11020120

    authors： Guo R,Chen F,Shi Z

    更新日期：2020-01-22 00:00:00

  • TYK2 Variants in B-Acute Lymphoblastic Leukaemia.

    abstract：:B-cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the Janus kinase (JAK) gene family. Among them, tyrosine kinase 2 (TYK2) is involved in signal transduction of cytokines such as interferon (IFN) α/β through IFN-α/β receptor alpha chain (IF...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11121434

    authors： Turrubiartes-Martínez E,Bodega-Mayor I,Delgado-Wicke P,Molina-Jiménez F,Casique-Aguirre D,González-Andrade M,Rapado I,Camós M,Díaz-de-Heredia C,Barragán E,Ramírez-Orellana M,Aguado B,Figuera Á,Martínez-López J,Fernández-Ruiz

    更新日期：2020-11-28 00:00:00