Papers nuevos sobre Genética y genómica
98 papers nuevos sobre genética y genómica en los últimos 7 días, dentro de Biología. Acá están los 50 que Pipette considera más valiosos, con el resultado principal en palabras de sus autores.
Lo mejor de la semana
The DNA Legacy of Thomas Jefferson
Using these DNA data, we find clear evidence of Thomas Jefferson ancestry in descendants of both his wife Martha Wayles Jefferson and Sally Hemings.
PreprintInterés amplioThe gene-regulatory evolution of the human skeleton
These atlases reveal an extensive rewiring of the extracellular matrix (ECM), including a marked suppression of glycosaminoglycan (GAG) biosynthesis, leading to an approximately three-to-fourfold reduction in joint GAG content in humans compared with non-human apes.
Revista con revisión por paresDice ser un gran avanceA near-complete chromosome from a bacterial pathogen integrated into the genome of its arthropod vector
In addition to numerous NUMTs and diverse families of transposable elements, an almost-complete chromosome of R. africae origin was identified in the cell line genome, localised to the putative sex chromosome.
PreprintDice ser un gran avanceUso en el mundo realBATOseq-PE: A public batoid DNA library with the first molecular insights into the cryptic diversity, genetic health, and management of Peruvian marine rays
To bridge this gap, we developed BATOseq-PE, the first public genetic reference library for Peruvian marine batoids, covering 14 species sequenced in vitro from local specimens, complemented by a novel in silico assembled mitogenome for Notoraja martinezi.
PreprintDice ser un gran avanceUso en el mundo realAncient introgression drives wild boar expansion and phenotypic diversification of domestic pigs
Here, using 745 genomes representing populations across Eurasia, we demonstrate that wild boar expanded from South Asia during the Middle Pleistocene.
Revista con revisión por paresSingle-nucleus atlas of cell-type specific genetic regulation in the human brain
Here we present a comprehensive, single-nucleus multi-ancestry atlas of genetic regulation of gene expression in the human prefrontal cortex, comprising 5.6 million nuclei from 1,384 donors of diverse ancestries.
Revista con revisión por paresDice ser un gran avanceGenome assembly of Eucalyptus recurva provides insights into inbreeding and conservation priorities in Australia's rarest Eucalyptus
Here we report the first genome assembly of E. recurva: a haplotype-resolved, gapless, telomere-to-telomere (T2T) assembly produced from Oxford Nanopore Technologies (ONT) long-read sequencing.
PreprintUso en el mundo realSperm AluY Epimutations in Male Partners of Couples with Unexplained Recurrent Pregnancy Loss
AluY epimutation represents a previously unrecognized, predominant signature of paternal epigenetic perturbation in uRPL, establishing repetitive elements as a new axis of sperm epigenetic risk.
PreprintDice ser un gran avanceTranscription factors read a second regulatory code in chromatin
We uncover a widespread, chromatin-dependent mode of sequence recognition: many TFs recognize motifs on nucleosomal DNA that are distinct from their canonical naked-DNA binding sites, revealing that nucleosome architecture encodes a second gene regulatory code in chromatin.
PreprintDice ser un gran avanceSpatial Transcriptomics Identifies Muscle Inflammation Susceptibility as a Distinct Periarticular Skeletal Muscle Phenotype in End-Stage Knee Osteoarthritis
Our findings provide the first spatial transcriptomic analysis of periarticular skeletal muscle in end-stage KOA and identify MuIS as a distinct local transcriptional phenotype in diseased muscle.
PreprintDice ser un gran avanceStarship transposons mobilise via a circular intermediate with potential biotechnological applications
Here we show that Starships, a recently discovered class of giant transposable elements in fungi, mobilise via an extrachromosomal circular intermediate.
PreprintUso en el mundo realTransposable Element insertions Repurpose Immune Endonucleases as Drivers of Reproductive Isolation in Mice
Here we resolve the DDK syndrome, a long-standing model of hybrid incompatibility in mice, by showing that two independent retrotransposon insertions rewire immune Schlafen endoribonuclease genes expression, causing hybrid embryo death.
PreprintIsoleucine absence from adult human hemoglobin is mirrored in mosquito proteomes and limits malaria parasite growth
Here we show a proteome-wide shift to lower isoleucine usage in blood-feeding mosquitoes, mirroring the known isoleucine deficiency of adult human hemoglobin.
PreprintAfirmaciones fuertes, leer con cuidadoGenetic variants associated with cell-type-specific intra-individual gene expression variability reveal mechanisms of genome regulation
MEOTIVE provides a robust framework for mapping the genetic regulation of gene-expression variability at single-cell resolution and reveals pathways linking cellular heterogeneity to autoimmune disease risk.
Revista con revisión por paresAn atlas of eukaryotic centromere architecture reveals recurrent evolutionary dynamics
Centromere architecture is evolutionarily labile, and similar configurations arise independently across divergent lineages.
PreprintKLHL40 gene replacement therapy in severe nemaline myopathy improves survival and skeletal muscle function in a preclinical mouse model
A single systemic administration of an AAV9 vector encoding human KLHL40 during early disease produced durable rescue of survival, skeletal muscle pathology, motor performance, and contractile function in KLHL40-deficient mice.
PreprintUso en el mundo realMapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy
Here, we present a variant-agnostic approach to rescue haploinsufficiency by mapping and rationally redesigning the MYBPC3 promoter.
PreprintAfirmaciones fuertes, leer con cuidadoUso en el mundo realEscape of the BC200 gene to a human poxvirus reveals its persistent transposition in primates
Thus, BC200 blurs the line between gene and transposon, combining stable function with persistent mobilization, including a recent escape into a human poxvirus.
Revista con revisión por paresAfirmaciones fuertes, leer con cuidadoThe chromosome level genome of the Blueberry Stem Gall Wasp, Hemadas nubilipennis (Hymenoptera: Ormyridae) on lowbush blueberry (Vaccinium angustifolium) reveals repeat-driven expansion
Given that (a) the biology has been characterized primarily from natural lowbush-associated populations, (b) the absence of genomic resources limits comparative analyses, and (c) populations on cultivated highbush represent a recent host shift, we generated the first chromosome-level genome from wild lowbush blueberry.
PreprintConvergent evolutionary loss of chemosensory and blood-feeding pathways in non-blood-feeding mosquitoes
Together, these findings identify a compact set of genes, expression patterns, and brain regions associated with blood feeding, offering an evolutionary entry point for functional dissection of how this complex and dangerous trait is built and dismantled.
PreprintPolygenic hierarchies of macroscale brain structural organisation
Together, these findings reveal a hierarchical organisation of the genetic architecture of macroscale human brain structure, spanning phenotype families, broad spatial gradients, and regionally restricted developmental programmes.
PreprintGenome-wide mapping of common and rare variant effects on adiposity across childhood
Here, we conducted age-stratified genetic association studies against objectively measured ( n = 62,276) or recalled childhood adiposity-related traits ( n eff = 599,924), identifying 624 common variants associated with childhood adiposity, with one-third having no concordant association with adult body mass index.
Revista con revisión por paresCryptic whole-genome duplication in bryozoans
Gene trees support a scenario in which all extant bryozoans share an ancient WGD and much of the genome rediploidised independently in the two clades.
PreprintComparative genome analyses suggest a common blueprint for obligate endoparasitism in Strepsiptera
For the first time, we compare the genome content of three strepsipteran species and find that they are remarkably consistent in broad structure, with approximately 600 insect universal single-copy orthologs that appear to be completely missing from the order.
PreprintAfirmaciones fuertes, leer con cuidadoFFPE-CUTAC: A Single Assay, Multiple Layers
Conclusions: By converting routinely preserved pathology sections into integrated regulatory and copy-number profiles, FFPE-CUTAC provides a practical foundation for constructing clinically annotated disease maps to support molecular stratification, prognostic modeling and treatment-association studies.
PreprintUso en el mundo realSorghum ANTHRACNOSE RESISTANCE GENE3 Is a Non-Coding RNA That Confers Fungal Resistance through Enhanced Cell Death
Importantly, silencing of the ARG3 transcript in the resistant parental line abrogated resistance to C. sublineola, confirming that ARG3 non-coding RNA gene underlies the fungal resistance mediated by the ARG3 locus in IS18760.
PreprintPhased Chromosome-level Genome and Organellar Assemblies of Castilleja foliolosa Provide Vital Resource for Orobanchaceae Genomics
Here, we present the first high-quality, phased, chromosome-level reference genome for the diploid species Castilleja foliolosa.
PreprintTargeted single-nucleus sequencing of 39,800 neurons reveals extensive low-frequency somatic variants
We uncovered an extensive landscape of ultra-low-frequency (<1%) somatic mutations across all analysed genes, including TARDBP.
PreprintGap-free telomere-to-telomere haplotypes assembly of the hybrid grouper 'Yushuban' (Cromileptes altivelis female x Epinephelus fuscoguttatus male)
We generated two gapless, telomere-to-telomere (T2T) haplotype-resolved genome assemblies of a single individual by integrating short-read, PacBio HiFi, Oxford Nanopore ultralong-read and Hi-C data.
PreprintThe mutational dynamics of the Arabidopsis centromeres
Together, our results show that centromere evolution is driven by a distinct mutational spectrum shaped by homology-directed DNA repair, providing a quantitative framework for understanding how mutational processes generate and maintain the large-scale architecture of centromeric DNA.
Revista con revisión por paresHigh-order enhancer hubs buffer allelic regulatory variation through kinetic compensation
Enhancer hubs therefore absorb allelic regulatory variation through kinetic compensation, protecting dosage-sensitive transcription.
PreprintAutism genes converge on three functional programs organized by neuronal subclass, developmental timing, and cortical patterning
Genes associated with ASD converge on three functional programs--gene regulation, neuronal morphogenesis, and synaptic transmembrane signaling machinery--resolved from 28 ASD-associated networks, several of which are directly regulated by ASD genes including MEF2C, SOX11, and FOXP2.
PreprintInnate immune stress pathway activation underlies heterochromatin dysfunction pathology
Using genetic interaction screening and genomic analyses in C. elegans, we identify secondary activation of the Intracellular Pathogen Response (IPR), an innate immune stress pathway, as a major contributor to heterochromatin mutant phenotypes.
PreprintDynamic Changes in the Urinary Proteome of Normal Pregnant Mice Carrying Phenylketonuria-Affected Fetuses
This study found that the maternal urine proteome can non-invasively reflect the systemic response induced by fetal-origin PKU, providing proof of concept and candidate biomarker resources for non-invasive early-pregnancy screening of PKU.
PreprintUso en el mundo realMitochondrial inheritance as an important parameter for the rational design of synthetic yeast polyploids
These findings demonstrate that mitochondrial inheritance is a key, environment-dependent determinant of allopolyploid fitness and should be considered alongside nuclear genome composition in the rational design of industrial allopolyploid strains
PreprintUso en el mundo realA comprehensive Arabidopsis transcription factor binding atlas reveals pervasive positional and syntactic organization of their DNA binding
Beyond motif recognition, we uncover widespread organizational principles of TF binding.
PreprintAI discovery of sequence rules for RNA polymerase II pausing revises the pause-release model of gene activation
Hence pause-release is dispensable for these responses.
PreprintSingle-cell analysis of chromatin accessibility in the human intestine identifies regulatory programs and clarifies genetic associations in Crohn’s disease
Here we built a comprehensive atlas of cell-type-resolved chromatin accessibility comprising 557,310 candidate cis-regulatory elements (cCREs) in terminal ileum and ascending colon from 23 patients with active and inactive Crohn's disease and 16 healthy controls.
Revista con revisión por paresVariation in enhancer activity across brain regions defines neurological disease risk and shapes cellular pathology
Collectively, these findings demonstrate that the enhancer specificity across the brain provides a powerful framework for dissecting complex trait biology and revealing cellular pathology.
PreprintA de novo GABPA Variant in a Patient with Multifocal Cutaneous Vascular Tumors of an Unclassified Entity
These findings define a new molecular mechanism underlying congenital vascular tumor formation and expand the role for ETS-family transcriptional regulation in human vascular anomalies.
PreprintPangenomics and machine learning reveal genetic variation to optimize carotenoids in sorghum grain
By integrating sorghum pangenomic resources with machine learning, this study establishes a framework for pangenome-accelerated trait discovery and identifies new genetic targets for carotenoid biofortification in sorghum.
PreprintUso en el mundo realGenome reshuffling as a route to specialization? Chromosome-level insights from the bark beetle symbiont genus Geosmithia.
Our results demonstrate that extensive structural genome evolution can occur in gene-dense fungal genomes and establish Geosmithia as a powerful model for studying the interplay between genome evolution and ecological diversification.
PreprintGraph-based pangenome of Venturia inaequalis, the apple scab fungus, reveals structural variants associated with population differentiation
We used the graph-based pangenome to genotype 136 globally distributed V. inaequalis isolates and identified variants differentiating populations associated with domesticated apple (Malus domestica) from those associated with its Central Asian wild progenitor, M. sieversii.
PreprintA Trisomy 21 Model Atlas reveals conserved dosage effects and context-specific transcriptional responses across mouse and human models of Down syndrome
We present the initial release of the Trisomy 21 Model Atlas, comprising bulk transcriptomic profiling and histopathology across seven tissues and three developmental timepoints in the Dp(16)1Yey mouse model along with transcriptional profiles from human iPSC-derived cell types.
PreprintA single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits
Integrating these data with genome-wide association study statistics allowed us to prioritise specific neural cell populations relevant for complex traits.
PreprintUltra-fast and scalable high-resolution full-length single-cell RNA sequencing using CHART-seq
CHART-seq provides a rapid, scalable route to full-length single-cell transcript profiling with gene-programme and candidate isoform resolution.
PreprintSingle-cell multiomic QTL mapping reveals state-dependent genetic regulation and associated gene during cellular senescence
This study establishes senescence-resolved joint multiomic QTL mapping as a framework for narrowing the missing regulation gap in complex disease genetics.
PreprintGenomics of Educational Attainment Across 80 Years of Social and Political Transformation in Germany
Polygenic index associations with educational attainment were robust and strengthened modestly across more recent birth cohorts, with no detectable difference between East and West Germany.
PreprintThe effect of microgravity and flows on the organization and dynamics of the human genome
Notably, the genome organization and dynamics remain largely preserved.
Revista con revisión por paresAnalysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia
We identify 16 genes at exome-wide significance: SETD1A, ZMYM2, HERC1, RB1CC1, SCAF1, XPO7, SP4, FYN, PPP3CA, CUL1, HDAC9, JARID2, ATP9A, PTK2, STAG1, and SCN2A, and an additional 24 at a 5% false discovery rate.
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