Gene Expression in
mBio, 2017 Leishmania tropica, a unicellular eukaryotic parasite present in North and East Africa, the Middle East, and the Indian subcontinent, has been linked to large outbreaks of cutaneous leishmaniasis in displaced populations in Iraq, Jordan, and Syria. Here,
Stefano A. Iantorno +9 more
doaj +7 more sources
Compensation of gene dosage on the mammalian X.
DevelopmentChanges in gene dosage can have tremendous evolutionary potential (e.g. whole-genome duplications), but without compensatory mechanisms, they can also lead to gene dysregulation and pathologies.
Cecalev D, Viçoso B, Galupa R.
europepmc +2 more sources
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes [PDF]
Cell GenomicsSummary: Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive ...
Guillaume Huguet +29 more
doaj +3 more sources
Brain region and gene dosage-differential transcriptomic changes in Shank2-mutant mice [PDF]
Frontiers in Molecular Neuroscience, 2022 Shank2 is an abundant excitatory postsynaptic scaffolding protein that has been implicated in various neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD), intellectual disability, attention-deficit/hyperactivity ...
Ye-Eun Yoo +4 more
doaj +2 more sources
Transient protein-protein interactions perturb E. coli metabolome and cause gene dosage toxicity
bioRxiv, 2016 Several genes exhibit gene dosage toxicity yet its molecular underpinnings remain unknown. Here we demonstrate that overexpression of DHFR in E. coli causes toxic metabolic imbalance triggered by interactions with several enzymes involved in 1-carbon ...
Sanchari Bhattacharyya +6 more
openalex +2 more sources
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
Nature Communications, 2019 Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with ...
Georgios Stamoulis +11 more
doaj +2 more sources
Sex-chromosome dosage effects on gene expression in humans [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance Sex-chromosome dosage (SCD) effects on human gene expression are central to the biology of sex differences and sex-chromosome aneuploidy syndromes but are challenging to study given the cosegregation of SCD and gonadal status.
Armin Raznahan +14 more
openalex +2 more sources
Gene dosage compensation: Origins, criteria to identify compensated genes, and mechanisms including sensor loops as an emerging systems‐level property in cancer [PDF]
Cancer Medicine, 2023 The gene dosage compensation hypothesis presents a mechanism through which the expression of certain genes is modulated to compensate for differences in the dose of genes when additional chromosomes are present.
Diana M. Bravo‐Estupiñan +6 more
doaj +2 more sources
IncreasedRrm2gene dosage reduces fragile site breakage and prolongs survival of ATR mutant mice [PDF]
Genes & Development, 2015 In S. cerevisiae, deletion of the checkpoint kinase Mec1 (ATR) is viable upon mutations that increase the activity of the ribonucleotide reductase (RNR) complex. Lopez-Contreras et al.
Andrés J. López‐Contreras +11 more
openalex +2 more sources
Proteostasis modulates gene dosage evolution in antibiotic-resistant bacteria. [PDF]
ElifeJena C +3 more
europepmc +3 more sources