Publications related to Karyotype

Whole-genome doubling drives oncogenic loss of chromatin segregation

Elisa Oricchio, Daniele Tavernari, Natalya Katanayeva, Ruxandra-Andreea Lambuta, Juan Diaz Miyar, Giovanni Ciriello

Whole-genome doubling (WGD) is a recurrent event in human cancers and it promotes chromosomal instability and acquisition of aneuploidies(1-8). However, the three-dimensional organization of chromatin in WGD cells and its contribution to oncogenic phenotyp ...

NATURE PORTFOLIO2023

Regulation and impact of TERRA R-loops at human telomeres

Rita Valador Fernandes

Telomeres are the nucleoprotein structures found at the ends of linear chromosomes. They ensure that the termini of chromosomes are not inappropriately recognized as sites of DNA damage, and are therefore crucial for genome stability. In spite of the heter ...

EPFL2023

Identification and characterization of proteins that protect human telomeres from fragility

Anna Christina Näger

Difficulties to replicate telomeres - the ends of our chromosomes - can cause telomere shortening and genome instability. These difficulties are due to the repetitive DNA sequence and distinct structures at telomeres that challenge the semi-conservative DN ...

EPFL2022

Histone acetylation dynamics modulates chromatin conformation and allele-specific interactions at oncogenic loci

Elisa Oricchio, Natalya Katanayeva, Daniele Tavernari, Stephanie Jocelyne Sungalee, Ruxandra-Andreea Lambuta, Giovanni Ciriello

In cancer cells, enhancer hijacking mediated by chromosomal alterations and/or increased deposition of acetylated histone H3 lysine 27 (H3K27ac) can support oncogene expression. However, how the chromatin conformation of enhancer-promoter interactions is a ...

2021

Challenging endings: How telomeres prevent fragility

Joachim Lingner, Galina Glousker

It has become apparent that difficulties to replicate telomeres concern not only the very ends of eukaryotic chromosomes. The challenges already start when the replication fork enters the telomeric repeats. The obstacles encountered consist mainly of nonca ...

WILEY2021

Infrared nanospectroscopic mapping of a single metaphase chromosome

Giovanni Dietler, Andrzej Kulik, Francesco Simone Ruggeri, Ewelina Wioletta Lipiec

The integrity of the chromatin structure is essential to every process occurring within eukaryotic nuclei. However, there are no reliable tools to decipher the molecular composition of metaphase chromosomes. Here, we have applied infrared nanospectroscopy ...

Oxford University Press (OUP)2019

Revealing chromatin organization in metaphase chromosomes

Beat Fierz

The local structural organization of chromatin in mitotic chromosomes is not well understood. A new cryo-electron tomography study from the Daban laboratory (Chicano et al, ) reveals that mitotic chromatin isolated from human cells can assume a plate-like ...

WILEY2019

User-Friendly Image-Based Segmentation and Analysis of Chromosomes

Michaël Unser, Florian Maria Wurm, Lucia Baldi Unser, Ricard Delgado Gonzalo, Virginie Sophie Uhlmann

We designed two efficient and user-friendly tools for the segmentation and analysis of images containing chromosomes or, more generally, rod-shaped elements that are spread on microscopic slides. The segmentation tool allows to automatically extract the pr ...

IEEE2016

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

Bart Deplancke, Andreas Massouras, Sandy Lee, Yi Han, Yiming Zhu

The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. We used a ...

Cold Spring Harbor Laboratory Press2014

Analysis of centriole elimination during C. elegans oogenesis

Pierre Gönczy, Graham Knott, Petr Strnad, Lukas von Tobel, Tamara Mikeladze-Dvali

Centrosomes are the principal microtubule organizing centers (MTOCs) of animal cells and comprise a pair of centrioles surrounded by pericentriolar material (PCM). Centriole number must be carefully regulated, notably to ensure bipolar spindle formation an ...

2012

TERRA Promotes Telomere Shortening through Exonuclease 1-Mediated Resection of Chromosome Ends

Joachim Lingner, Verena Pfeiffer

The long noncoding telomeric repeat containing RNA (TERRA) is expressed at chromosome ends. TERRA upregulation upon experimental manipulation or in ICF (immunodeficiency, centromeric instability, facial anomalies) patients correlates with short telomeres. ...

Public Library of Science2012

The Wnt inhibitory factor 1 (WIF1) is targeted in glioblastoma and has a tumor suppressing function potentially by induction of senescence

Mauro Delorenzi

Gene expression-based prediction of genomic copy number aberrations in the chromosomal region 12q13 to 12q15 that is flanked by MDM2 and CDK4 identified Wnt inhibitory factor 1 (WIF1) as a candidate tumor suppressor gene in glioblastoma. WIF1 encodes a sec ...

2011

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Yao Zhang, Pooja Agarwal

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his moth ...

Public Library of Science2010

Chromosomal Number Aberrations and Transformation in Adult Mouse Retinal Stem Cells In Vitro

Freddy Radtke, Ivan Stamenkovic

Purpose. The potential of stem cells (SCs) as a source for cell-based therapy on a wide range of degenerative diseases and damaged tissues such as retinal degeneration has been recognized. Generation of a high number of retinal stem cells (RSCs) in vitro w ...

2009

Controlled Exchange of Chromosomal Arms Reveals Principles Driving Telomere Interactions in Yeast

Michaël Unser, Daniel Sage

The 32 telomeres in the budding yeast genome cluster in three to seven perinuclear foci. Although individual telomeres and telomeric foci are in constant motion, preferential juxtaposition of some telomeres has been scored. To examine the principles that g ...

Cold Spring Harbor Laboratory Press2008

Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection

Florian Maria Wurm, David Hacker, Madiha Derouazi, Sébastien Chenuet, Nicolas Jaccard

Transfection with polyethylenimine (PEI) was evaluated as a method for the generation of recombinant Chinese hamster ovary (CHO DG44) cell lines by direct comparison with calcium phosphate-DNA coprecipitation (CaPO4) using both green fluorescent protein (G ...

2008

Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends

Joachim Lingner

Telomeres, the DNA-protein complexes located at the end of linear eukaryotic chromosomes, are essential for chromosome stability. Until now, telomeres have been considered to be transcriptionally silent. We demonstrate that mammalian telomeres are transcri ...

American Association for the Advancement of Science2007

Genetic characterization of CHO production host DG44 and derivative recombinant cell lines

Florian Maria Wurm, David Hacker, Madiha Derouazi, Martin Bertschinger

The dihydrofolate reductase-deficient Chinese hamster ovary (CHO) cell line DG44 is the dominant mammalian host for recombinant protein manufacturing, in large part because of the availability of a well-characterized genetic selection and amplification sys ...

2006