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Biology subjects

Lefebvre, M.

Publications and source records attributed to Lefebvre, M..

4 recordsLinked to original sources

Parent-of-origin phasing of somatic mutations shows equal mutation burden between parental genomes in human cancers

Somatic mutations accumulate independently in the two parental genome copies of our cells throughout life and shape cancer evolution. Although local mutation rates are influenced by allele-specific features such as DNA sequence, epigenetic marks, and chromatin structure, whether these translate into genome-wide differences in mutation accrual between the two parental copies is unknown. Cancer genomics analyses, including copy-number gain timing and molecular archaeology, assume that mutations accrue symmetrically on the two homologous parental genomes, yet this assumption has never been tested. Here we present PhaSoMix, a framework exploiting the genetic differentiation between parental haplotypes in admixed cancer patients to assign somatic mutations to their parent of origin without parent or parent-surrogate sequencing. Applying it with explicit modeling and propagation of phasing and ancestry-inference uncertainty across 21 tumor whole genomes from the Pan-Cancer Analysis of Whole Genomes cohort, we find mutation burdens highly symmetric between maternal and paternal genomes, across cancer types, genomic annotations, clonal timing categories, and mutational processes including clock-like CpG sites, bounding any asymmetry to within 4-5%. Simulations show that violations would substantially bias gain-timing estimates in late evolutionary windows. This provides the first quantification of parental mutation-burden symmetry in vivo, validating a key assumption of cancer evolutionary analyses.

genomics↗

Integrating metagenome-scale metabolic modelling and metabolomics to identify biochemical interactions in Microcystis phycospheres

Favoured by global changes, freshwater cyanobacterial harmful blooms generate major ecological, economical and public health challenges. Microcystis, one of the most widespread cyanobacterial genera, grows within a phycosphere where specialised interactions with its microbiome occur, and are suspected to influence bloom appearance and its potential toxicity. Using a combination of metagenomic, metabolomic and metabolic modelling, we characterised the phycospheres of twelve Microcystis strains isolated from a French pond. The distribution of metabolic reactions within Microcystis was consistent with their genospecies, whereas the metabolic landscape at the community level diverged from cyanobacterial phylogeny indicating functional decoupling between cyanobacteria and their associated microbiomes. Phycosphere-associated bacteria substantially expand the metabolic repertoire of the system, while maintaining functional redundancy within and across communities. On the other hand, metabolomic profiles were largely driven by cyanobacterial metabolic outputs. Metabolic modelling, together with the identification of toxic specialised metabolites produced by specific biosynthetic gene clusters, further highlighted differences in metabolic potential among phycospheres. Together, these findings deepen the understanding of Microcystis phycosphere functioning, demonstrate the value of multi-omics systems biology approaches, and underscore the ecological relevance of interspecies and inter-phycosphere metabolic interactions as a structuring process in bloom-associated microbiomes.

systems biology↗

Chromosome segregation in Escherichia coli involves DNA binding by the MinC-MinD complex

The Escherichia coli Min system, composed of the proteins MinC, MinD, and MinE, is crucial for directing septum formation at mid-cell. MinD has also been shown to bind DNA in a non-sequence-specific manner and to tether plasmid DNA to liposomes. A role for the Min system in chromosome segregation has been proposed, whereby repeated, transient membrane-tethering events mediated by MinD could help prevent backward movements of the duplicated chromosomes once entropic forces weaken. However, the contribution of the other Min proteins to DNA binding has remained unclear. Here, we demonstrate that DNA binding is strongly enhanced when MinD and MinC form a complex, while MinE and FtsZ (at high concentrations) interfere with this binding. We reveal a critical role for the linker connecting MinCs N- and C-terminal domains in both DNA binding and inhibition of FtsZ polymerization. E. coli strains expressing MinC linker variants from the native locus, in combination with the alpha subunit of HU tagged with GFP, display chromosomes that appear more spread throughout the cell. This phenotype could reflect reduced compaction, chromosome segregation defects, or a combination of both. These findings suggest a previously unrecognized role for the MinC linker in DNA binding and provide new insights into a potential physiological role of MinCD-DNA bnding in chromosome organization and/or dynamics.

microbiology↗

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

PurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.\n\nMethodsWe analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations.\n\nResultsThe number of rare secondary mutations in functionally intolerant genes (second-hits) correlated with the expressivity of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in probands with autism carrying gene-disruptive mutations (n=184, p=0.03) compared to their carrier family members. Probands with 16p12.1 deletion and a strong family history presented more severe clinical features (p=0.04) and higher burden of second-hits compared to those with mild/no family history (p=0.001). The number of secondary variants also correlated with the severity of cognitive impairment in probands carrying pathogenic rare CNVs (n=53) or de novo mutations in disease genes (n=290), and negatively correlated with head size among 80 probands with 16p11.2 deletion. These second-hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for genes affecting cellular and developmental processes.\n\nConclusionAccurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate gene mutation is identified.

genomics↗