Publications related to Chromosome 21

The THO complex counteracts TERRA R-loop-mediated telomere fragility in telomerase(+) cells and telomeric recombination in ALT(+) cells

Telomeres are the nucleoprotein structures at the ends of linear chromosomes. Telomeres are transcribed into long non-coding Telomeric Repeat-Containing RNA (TERRA), whose functions rely on its ability to associate with telomeric chromatin. The conserved T ...

OXFORD UNIV PRESS2023

The makings of TERRA R-loops at chromosome ends

Joachim Lingner, Marianna Feretzaki, Rita Valador Fernandes

Telomeres protect chromosome ends from nucleolytic degradation, uncontrolled recombination by DNA repair enzymes and checkpoint signaling, and they provide mechanisms for their maintenance by semiconservative DNA replication, telomerase and homologous reco ...

TAYLOR & FRANCIS INC2021

Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations

Denis Duboule, Christopher Chase Bolt, Lucille Delisle

Mesomelic dysplasia, a severe shortening and bending of the limb, has been linked to rearrangements in the HoxD cluster in humans and mice. Here the authors engineer a 1 Mb inversion including the HoxD gene cluster and use this model to provide a mechanist ...

Nature Portfolio2021

RAD51-dependent recruitment of TERRA lncRNA to telomeres through R-loops

Joachim Lingner, Thomas Frédéric Lunardi, Marianna Feretzaki, Rita Valador Fernandes

Telomeres-repeated, noncoding nucleotide motifs and associated proteins that are found at the ends of eukaryotic chromosomes-mediate genome stability and determine cellular lifespan1. Telomeric-repeat-containing RNA (TERRA) is a class of long noncoding RNA ...

2020

Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells

Sebastian Martin Waszak, Ruxandra-Andreea Lambuta

TP53 deficiency is the most common alteration in cancer; however, this alone is typically insufficient to drive tumorigenesis. To identify genes promoting tumorigenesis in combination with TP53 deficiency, we perform genome-wide CRISPR-Cas9 knockout screen ...

2020

Expression and differential regulation of human TERRA at several chromosome ends

Joachim Lingner, Marianna Feretzaki, Patricia Renck Nunes

The telomeric long noncoding RNA TERRA has been implicated in regulating telomere maintenance by telomerase and homologous recombination, and in influencing telomeric protein composition during the cell cycle and the telomeric DNA damage response. TERRA tr ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2019

Functional analysis of the telomeric long non-coding RNA TERRA

Patricia Renck Nunes

Telomeres are nucleoprotein structures present in the end of linear chromosomes. In humans, a core complex of 6 proteins cap and protect the chromosome ends from being recognized as double-strand breaks and eliciting unwanted DNA damage and repair response ...

EPFL2019

The telomeric DNA damage response: Insights into telomere compaction and identification of novel damage signaling factors

Aleksandra Vancevska

Telomeres are dynamic nucleo-protein structures capping the ends of all eukaryotic chromosomes. Together with telomerase, they counteract replication-dependent telomere attrition. Additionally, they disguise the linear ends of the chromosome from the DNA d ...

EPFL2018

A practical qPCR approach to detect TERRA, the elusive telomeric repeat-containing RNA

Joachim Lingner, Marianna Feretzaki

Telomeres, the heterochromatic structures that protect the ends of the chromosomes, are transcribed into a class of long non-coding RNAs, telomeric repeat-containing RNAs (TERRA), whose transcriptional regulation and functions are not well understood. The ...

2017

Telomere functions grounding on TERRA firma

Joachim Lingner

Long noncoding telomeric repeat-containing RNAs TERRAs - are transcribed in a regulated manner from telomeres throughout eukaryotes. TERRA molecules consist of chromosome end-specific subtelomeric sequences and telomeric repeats at their 3' ends. Recent wo ...

Elsevier Science London2015

Functional Dissection of Intersubunit Interactions in the EspR Virulence Regulator of Mycobacterium tuberculosis

Giovanni Dietler, Stewart Cole, Aleksandre Japaridze, Matteo Dal Peraro, Florence Pojer, Marco Stenta, Benjamin Blasco, Basile Isidore Martin Wicky

The nucleoid-associated protein EspR, a chromosome organizer, has pleiotropic effects on expression of genes associated with cell wall function and pathogenesis in Mycobacterium tuberculosis. In particular, EspR binds to several sites upstream of the espAC ...

American Society for Microbiology2014

Replication of Telomeres and the Regulation of Telomerase

Joachim Lingner, Verena Pfeiffer

Telomeres are the physical ends of eukaryotic chromosomes. They protect chromosome ends from DNA degradation, recombination, and DNA end fusions, and they are important for nuclear architecture. Telomeres provide a mechanism for their replication by semico ...

Cold Spring Harbor Lab Press, Publications Dept2013

Multiscale Spatial Organization of RNA Polymerase in Escherichia coli

Seamus John Holden

Nucleic acid synthesis is spatially organized in many organisms. In bacteria, however, the spatial distribution of transcription remains obscure, owing largely to the diffraction limit of conventional light microscopy (200-300 nm). Here, we use photoactiva ...

Cell Press2013

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

A new genomic evolutionary model for rearrangements, duplications, and losses that applies across eukaryotes and prokaryotes

Bernard Moret, Yu Lin

Genomic rearrangements have been studied since the beginnings of modern genetics and models for such rearrangements have been the subject of many papers over the last 10 years. However, none of the extant models can predict the evolution of genomic organiz ...

Mary Ann Liebert2011

A New Genomic Evolutionary Model for Rearrangements, Duplications, and Losses that Applies across Eukaryotes and Prokaryotes

Bernard Moret, Yu Lin

Genomic rearrangements have been studied since the beginnings of modern genetics and models for such rearrangements have been the subject of many papers over the last 10 years. However, none of the extant models can predict the evolution of genomic organiz ...

Springer Verlag New York2010

Identification of genetic insulator elements to increase the safety of viral gene therapy vectors

Armelle Gaussin

Haematopoeitic system diseases, both acquired and inherited, can be currently cured by allogeneic haematopoietic stem cell transplantation. This treatment provides highly successful immune function recovery for patients receiving grafts of HLA-compatible d ...

EPFL2010

DCJ median problems on linear multichromosomal genomes: Graph representation and fast exact solutions

Wei Xu

Given a set of genomes g and a distance measure d, the genome rearrangement median problem asks for another genome q that minimizes Sigma n is an element of g(d(q,g)). This problem lies at the heart of phylogenetic reconstruction from rearrangement data. w ...

Springer2009

TERRA: telomeric repeat-containing RNA

Joachim Lingner

Telomeres, the physical ends of eukaryotic chromosomes, consist of tandem arrays of short DNA repeats and a large set of specialized proteins. A recent analysis has identified telomeric repeat-containing RNA ( TERRA), a large non-coding RNA in animals and ...

2009

Telomerase is essential to alleviate pif1-induced replication stress at telomeres

Joachim Lingner

Pif1, an evolutionarily conserved helicase, negatively regulates telomere length by removing telomerase from chromosome ends. Pif1 has also been implicated in DNA replication processes Such as Okazaki fragment maturation and replication fork pausing. We fi ...

2009