Publications associées à Hérédité non mendélienne

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

Inheritance of H3K9 methylation regulates genome architecture in Drosophila early embryos

Fides Zenk

Constitutive heterochromatin is essential for transcriptional silencing and genome integrity. The establishment of constitutive heterochromatin in early embryos and its role in early fruitfly development are unknown. Lysine 9 trimethylation of histone H3 ( ...

Springernature2024

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Jacques Fellay, Yu Zhang, Peng Zhang, Qian Zhang

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvac ...

BMC2023

Environment-dependent epistasis increases phenotypic diversity in gene regulatory networks

Florence Gauye, Florian Baier

Mutations to gene regulatory networks can be maladaptive or a source of evolutionary novelty. Epistasis con-founds our understanding of how mutations affect the expression patterns of gene regulatory networks, a chal-lenge exacerbated by the dependence of ...

AMER ASSOC ADVANCEMENT SCIENCE2023

Current challenges in understanding the role of enhancers in disease

Bart Deplancke

Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing eviden ...

NATURE PORTFOLIO2022

Polygenic modelling of treatment effect heterogeneity

Zhi Ming Xu

Mendelian randomization is the use of genetic variants to assess the effect of intervening on a risk factor using observational data. We consider the scenario in which there is a pharmacomimetic (i.e., treatment-mimicking) genetic variant that can be used ...

2020

The Gene-Regulatory Footprint of Aging Highlights Conserved Central Regulators

Johan Auwerx, Richardus Houtkooper, Maroun Bou Sleiman, Xu Wang, Pooja Jha

Many genes and pathways have been linked to aging, yet our understanding of underlying molecular mechanisms is still lacking. Here, we measure changes in the transcriptome, histone modifications, and DNA methylome in three metabolic tissues of adult and ag ...

2020

Direct coupling analysis of epistasis in allosteric materials

Matthieu Wyart, Riccardo Ravasio, Carolina Brito Carvalho dos Santos, Barbara Bravi

In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...

2020

Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

Marion Leleu, Ludovica Vanzan, Flavia Marzetta, Ioannis Xenarios

Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington's disease (HD). Upon expansion, disease loci acquire heterochromatic characteristics, which may provoke changes to chromatin conformation ...

2020

The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform

Johan Auwerx, Martinus Gijs, Matteo Cornaglia, Hüseyin Baris Atakan

Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

Nature Research2019

Feature Learning of Virus Genome Evolution With the Nucleotide Skip-Gram Neural Network

Hyunjin Shim

Recent studies reveal that even the smallest genomes such as viruses evolve through complex and stochastic processes, and the assumption of independent alleles is not valid in most applications. Advances in sequencing technologies produce multiple time-poi ...

2019

Long-term imaging, automated high-content phenotyping and sorting of C. elegans larvae and embryos using microfluidic platforms

Hüseyin Baris Atakan

C. elegans is frequently studied to address fundamental biological questions motivated by its short life cycle, small size, hermaphrodite behavior and well-annotated genome. In this work, we present novel microfluidic platforms that support long-term cultu ...

EPFL2019

Genetic Determinism vs. Phenotypic Plasticity in Protist Morphology

Edward Mitchell, Bjorn Jozef Maria Robroek, Mariusz Lamentowicz, Enrique Lara

Untangling the relationships between morphology and phylogeny is key to building a reliable taxonomy, but is especially challenging for protists, where the existence of cryptic or pseudocryptic species makes finding relevant discriminant traits difficult. ...

Wiley2017

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome

Frédéric Bruno Martin Gachon, Konstantin Popadin, Daniel Alain Dominique Marie Mauvoisin

The importance of natural gene expression variation for human behavior is undisputed, but its impact on circadian physiology remains mostly unexplored. Using umbilical cord fibroblasts, we have determined by genome-wide association how common genetic varia ...

Elife Sciences Publications Ltd2017

Male-killing symbiont damages host's dosage-compensated sex chromosome to induce embryonic apoptosis

Bruno Lemaitre, Toshiyuki Harumoto

Some symbiotic bacteria are capable of interfering with host reproduction in selfish ways. How such bacteria can manipulate host's sex-related mechanisms is of fundamental interest encompassing cell, developmental and evolutionary biology. Here, we uncover ...

Nature Publishing Group2016

Corneal Dystrophies: Overview and Summary

In this chapter, I shall discuss the genetics, mode of inheritance and molecular origin of several corneal dystrophies. ...

Elsevier Academic Press Inc2015

When Others Impinge upon Your Privacy : Interdependent Risks and Protection in a Connected World

Mathias Jacques Jean-Marc Humbert

Privacy is defined as the right to control, edit, manage, and delete information about oneself and decide when, how, and to what extent this information is communicated to others. Therefore, every person should ideally be empowered to manage and protect hi ...

EPFL2015

The Black cells phenotype is caused by a point mutation in the Drosophila pro-phenoloxidase 1 gene that triggers melanization and hematopoietic defects

Bruno Lemaitre, Olivier Binggeli, Maroun Bou Sleiman, Lise Bertin

Melanization contributes to arthropod-specific innate immunity through deposition of melanin at wound sites or around parasites, with concomitant release of microbicidal reactive oxygen species. Melanization requires sequential activation of proteolytic en ...

Elsevier2015

A Systems Approach to Identify Genetic and Environmental Regulators of Metabolism

Evan Graehl Williams

For more than a century, it has been recognized that our genetic inheritance and our environment interact to shape who we are and how we act (nature vs. nurture ), and the study of genetics has allowed us to explain why traits can vary dramatically betwee ...

EPFL2014

Effects of ploidy and sex-locus genotype on gene expression patterns in the fire ant Solenopsis invicta

Chitsanu Khurewathanakul, Oksana Riba Grognuz, Laurent Keller

Males in many animal species differ greatly from females in morphology, physiology and behaviour. Ants, bees and wasps have a haplodiploid mechanism of sex determination whereby unfertilized eggs become males while fertilized eggs become females. However, ...

Royal Soc2014