🧬 Category

genetics

193 papers

Genetics is the fascinating study of how traits are passed down and how our DNA shapes everything from eye color to disease risk. At Gist.Science, we bring you the very latest discoveries in this dynamic field directly from bioRxiv, the leading preprint server for biology. Because these findings appear months before formal publication, staying updated requires sifting through complex data that often feels inaccessible to non-specialists.

To bridge that gap, our team processes every new genetics preprint uploaded to bioRxiv, transforming dense scientific reports into clear, plain-language explanations alongside detailed technical summaries. This dual approach ensures that whether you are a seasoned researcher or simply curious about how genes work, you can grasp the core insights without getting lost in jargon. Below are the latest papers in genetics, curated and simplified for your reading.

🧬 genetics

A gene-augmentation framework for selected early-stage autosomal recessive retinitis pigmentosa genotypes

This study establishes a preclinical framework for developing gene-augmentation therapies for early-stage autosomal recessive retinitis pigmentosa by identifying 19 tractable genotypes, validating cell-specific promoters in rhesus monkeys, and demonstrating that AAV8-mediated PDE6B delivery preserves retinal structure and function in mouse models while showing dose-dependent safety profiles.

Ma, P., Sun, X., Xu, S., Yang, M., Gao, C., Chen, X., Gong, L., Zeng, W., Renger, J. J., Xue, Y.2026-08-12
🧬 genetics

Range wide analysis of genetic diversity and structure gives insights into Rosa gallica L. evolutionary history

This study utilizes range-wide microsatellite genotyping of 1,618 individuals to reveal that the current distribution of *Rosa gallica* was primarily shaped by post-glacial recolonization from a southern refugium, while also demonstrating a significant contribution of human-mediated dispersal, particularly in France where wild and cultivated lineages frequently overlap.

Pawula, C., Clotault, J., Lepais, O., Chastellier, A., Ordonez Trejo, E. J., Thouroude, T., Assini, S., Bakay, L., Barth (…)2026-08-11
🧬 genetics

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy modulating therapy.

This study characterizes a novel HSPB8 c.515dupC knock-in mouse model that recapitulates key features of HSPB8-associated myopathy and demonstrates that trehalose treatment ameliorates disease pathology by restoring HSPB8 expression and enhancing autophagy.

Shmara, A., Weiss, L., Gromova, A., Tedesco, B., Pal, P., Kostalnick, G., Boock, V., Bassett, E., Parera, S., Cheng, C. (…)2026-08-09
🧬 genetics

Genome-wide association study in Heterogeneous Stock rats identifies genetic loci associated with aversion-based learning and cocaine aversion

This genome-wide association study in Heterogeneous Stock rats identifies multiple heritable genetic loci and candidate genes associated with aversion-based learning and cocaine aversion, suggesting these traits are complex and may pleiotropically influence broader addiction biology.

Tatom, Z., Eid, M., Missfeldt Sanches, T., Chitre, A. S., Ang, G., Ziegler, K. S., Peng, B., Keung, E., Nguyen, K.-M., C (…)2026-08-08
🧬 genetics

Genetic drivers of protein changes over time: Findings, considerations, and approaches in TOPMed cohorts and UK Biobank

This study utilizes longitudinal proteomics data from TOPMed and UK Biobank cohorts to demonstrate that while baseline-adjusted models identify numerous genetic drivers of protein changes over time, many of these findings likely stem from statistical artifacts like collider bias or regression to the mean, highlighting the critical need for careful modeling strategies to accurately uncover true genetic mechanisms of proteomic aging.

Gillman, M. G., Chen, H., Howard, A. G., Mi, M., Chen, Z.-Z., Clish, C. B., Cruz, D. E., Durda, P., Johnson, C., Manicha (…)2026-08-07
🧬 genetics

Genotype-specific ecological and environmental drivers of HPAI H5N1 spread in wild birds in France, 2021-2023

This study reveals that the spread of HPAI H5N1 among wild birds in France (2021–2023) is highly heterogeneous across viral genotypes and driven by a complex interplay of host species, environmental factors, and ecological interfaces, necessitating updated risk zoning and targeted surveillance strategies.

Couty, M., Briand, F.-X., Fornasiero, D., Grasland, B., Palumbo, L., Le Loc'h, G., Guinat, C.2026-08-07
🧬 genetics

Genetic and epigenetic divergence among Arabidopsis thaliana Col-0 laboratory lineages since the 1950s

This study reveals that the widely used *Arabidopsis thaliana* Col-0 reference genotype has diverged into a collection of distinct laboratory lineages since the 1950s, accumulating significant genetic and epigenetic variations that may impact experimental reproducibility across different research groups.

Tadros, A. M., Zhang, Z., Yao, N., Mosher, R. A., Johannes, F., Schmitz, R. J.2026-08-06
🧬 genetics

Aberrant expression of stress-related Hsrω-n lncRNA contributes to CGG repeat-mediated toxicity in a Drosophila model of FXTAS

This study demonstrates that in a Drosophila model of Fragile X-associated tremor/ataxia syndrome (FXTAS), expanded CGG repeats induce the overexpression of the stress-related lncRNA Hsrω-n, which exacerbates neurotoxicity by sequestering essential RNA-binding and chromatin remodeling proteins, a mechanism conserved in mammals through the upregulation of SatIII and Neat1.

Ahmed, N., Reshi, M. M., Singh, A. K., Jin, Y., Jin, P., Qurashi, A. A.2026-08-04
🧬 genetics

From Wikipedia to AI: Measuring 25 years of synthesis of human genetics research in the public-facing information ecosystem

This study analyzes 25 years of Wikipedia revisions and emerging AI outputs to reveal that human genetics research is frequently synthesized into public information about ethnicity and nationality, with AI-generated encyclopedias exhibiting a higher frequency of genetic references and a greater tendency to hallucinate or misrepresent this research compared to traditional sources.

Diaz-Papkovich, A., Kuntzleman, A., Davis, S. C., Ramachandran, S.2026-08-04
🧬 genetics

Centromeres are hotspots of cytosine methylation epimutations in a filamentous fungus

This study reveals that in the filamentous fungus *Neurospora crassa*, spontaneous epimutations occur at rates approximately 30,000 times faster than genetic mutations but are predominantly confined to centromeric heterochromatin and are not maintained in euchromatin, suggesting their limited potential for driving evolutionary adaptation.

Villalba de la Pena, M., Hull-Crew, C., Hutter, T. R., Vino, C. A., Sarkies, P., Colome-Tatche, M., Johannes, F., Klocko (…)2026-08-03