All articles tagged with #gene regulation
Canadian researchers show that Polycomb complexes PRC1 and PRC2 act as genetic brakes to silence early limb-formation genes at the right time, enabling later genetic programs to complete limb development; disrupting these systems in mice leads to improper gene expression and severe limb malformations, highlighting a fundamental principle of developmental regulation.
Mouse study reveals inherited DNA methylation patterns that break Mendel’s rules, identifying 522 non-sex-chromosome cases across three generations (~7%), plus emergent patterns and probable paramutation, suggesting inheritance can be shaped by epigenetic marks beyond DNA sequence and may influence trait transmission and disease risk.
Researchers mapped transcription-factor binding across 33 blood-group genes, uncovering regulatory switches that control antigen expression and explain why people with the same blood type can have different antigen levels. The Helgeson CR1 case shows how tiny DNA changes can reduce expression, affecting transfusion safety, and the approach could lead to more accurate blood typing and insight into malaria resistance.
A team used a new machine-learning tool called SIGNET to build a cell-type-specific map of gene regulation in brains from 272 Alzheimer's patients, identifying hub genes and thousands of causal interactions—especially in excitatory neurons—offering potential drug targets while noting that causality isn’t proven and comparisons with non-AD tissue are planned.
A new AI-based system called SIGNET maps causal gene regulatory networks across six brain cell types in Alzheimer's brains, revealing extensive gene rewiring—especially in excitatory neurons—and identifying hub genes that could serve as early diagnostic markers or therapeutic targets.
PARM, a cell-type-specific convolutional neural network trained on massively parallel reporter assays, predicts autonomous promoter activity from DNA sequences across multiple cell types and stimuli. It identifies functional TF motifs, uncovers a position-dependent regulatory grammar around the transcription start site, distinguishes activating and repressing factors, and can design synthetic promoters. The approach validates predictions with ISM and motif-insertion experiments, offering mechanistic insights into promoter regulation and potential applications in disease research and personalized medicine.
Google DeepMind unveils AlphaGenome, an AI that predicts how genetic mutations affect gene regulation across tissues, helping scientists pinpoint disease-driving variants and potentially guide new therapies; trained on public human and mouse data, it analyzes large DNA segments to map essential regulatory elements and their cell-type effects, with early praise from researchers but noting that real-world validation remains ongoing.
DeepMind’s AlphaGenome trains an AI on vast molecular data to forecast how mutations and regulatory DNA elements alter gene activity, extending the AlphaFold-era breakthrough from proteins to the genome; experts see it as a major engineering advance with potential for cancer and disease research, but stress it remains a predictive tool—its scope is limited to single mutations in a given genome, its predictions don’t capture all splice-site complexities, and clinical use still requires lab validation.
A US study finds eight psychiatric disorders—autism, ADHD, schizophrenia, bipolar disorder, major depressive disorder, Tourette syndrome, OCD, and anorexia—share genetic variants that affect brain development, with pleiotropic genes influencing multiple networks and developmental stages, suggesting shared targets for cross-disorder therapies.
Researchers have identified over 150 DNA control signals in brain cells called astrocytes that may influence Alzheimer's disease, using CRISPRi to study enhancer regions in non-coding DNA, which could lead to new insights and potential treatments for the disease.
Scientists at Northwestern University have created the most detailed 4D maps of the human genome's 3D organization over time, revealing how DNA folding influences gene activity and cell function, with implications for understanding diseases and developing targeted therapies.
Scientists have created a detailed 4D map of the human genome, revealing how its components interact over time in three dimensions, which could lead to advances in understanding gene regulation and developing new cancer therapies.
Researchers at the University of Navarra have developed RNACOREX, an open-source software that maps gene regulation networks in cancer, helping to understand tumor behavior and predict patient survival with clear, interpretable results, advancing personalized cancer treatment.
The study uncovers a human-specific regulatory mechanism involving endogenous retroviruses (ERVs), particularly HERVK LTR5Hs, which influence gene expression and lineage specification during early human development, using a stem cell-based blastoid model. Repression of LTR5Hs impairs blastoid formation, alters lineage allocation, and affects the expression of key genes like ZNF729, a human-specific gene regulated by a nearby LTR5Hs insertion that is essential for blastoid formation and proliferation. The work highlights the evolutionary role of ERVs as enhancers shaping human-specific developmental features.
A large-scale study reveals that Alzheimer's disease involves fundamental breakdowns in epigenomic control within brain cells, leading to gene expression dysregulation and cognitive decline, suggesting new treatment avenues targeting genome stability.