Base by Base

Pineda PS et al., Nature Communications - A telomere-to-telomere Wagyu assembly uncovers a natural neocentromere on the cattle X formed by inverted repeats and transposable element expansion, adds hundreds of new genes, and improves variant discovery. Key terms: cattle genomics, neocentromere, centromere evolution, telomere-to-telomere, structural variants. Study Highlights: The UOA_Wagyu_1 haplot...

Ricci C et al., Nature Communications - Reduction of CYFIP1 delays callosal axon growth and arborization by lowering intracellular calcium and impairing mitochondrial function. Key terms: cyfip1, axon development, calcium, mitochondria, callosal connectivity. Study Highlights: In vivo, Cyfip1+/- mice show delayed callosal axon growth at P5 and reduced axonal branching during P15 arborization that...

Genome Biology and Evolution - The Genomic Basis of the Svalbard Reindeer’s Adaptation to an Extreme Arctic Environment Music: Enjoy the music based on this article at the end of the episode. Article title: The Genomic Basis of the Svalbard Reindeer’s Adaptation to an Extreme Arctic Environment Journal: Genome Biology and Evolution DOI: 10.1093/gbe/evaf160 License: This episode is based on an open...

Engelbrecht E et al., Nat Commun - Long-read sequencing of IGK and IGL paired with AIRR-seq shows that common germline SNVs, SVs, and alleles drive inter-individual differences in light chain gene usage and CDR3 properties. Key terms: immunoglobulin-kappa, immunoglobulin-lambda, germline-variation, antibody-repertoire, long-read-sequencing. Study Highlights: The authors combined targeted long-read...

Thystrup C et al., Nat Commun (2025) - This study combines whole-genome sequencing and metagenomics to map the diversity, abundance, and genomic relationships of enteric foodborne pathogens across human, animal, food and environmental samples in four African LMICs. Key terms: metagenomics, whole-genome sequencing, foodborne pathogens, one-health, surveillance. Study Highlights: The project sampled...

Paul T et al., Nat Commun - Computational modeling reveals how ATP-driven conformational cycles of the XPD helicase drive directional 5′→3′ translocation on single-stranded DNA and how mutations disrupt this process to cause disease. Key terms: XPD, DinG, ssDNA translocation, nucleotide excision repair, disease mutations. Study Highlights: The authors combined molecular dynamics, partial nudged el...

Sands et al., Nature Communications - Using dual-color reporters in C. elegans, the study shows maternal H3K9 methyltransferases MET-2 and SET-25 antagonistically regulate autosomal random monoallelic expression initiated in the early embryo. Key terms: histone-methyltransferase, aRMAE, MET-2, SET-25, c-elegans. Study Highlights: Dual-color fluorescent reporter alleles in C. elegans intestine cell...

Petrova B et al., Proc Natl Acad Sci U S A - IMPACC longitudinal metabolomics and genomics analyses show that disruptions in one‑carbon/methionine metabolism together with MTHFR C677T genotype at hospital admission improve prediction of severe COVID‑19 and long COVID risk. Key terms: mthfr, one-carbon metabolism, methionine, metabolomics, long covid. Study Highlights: IMPACC profiled plasma metabo...

Shi W et al., Mechanistic insights into histone recognition and H3K14 acetylation by the NuA3 histone acetyltransferase complex - Cryo-EM structures of the yeast NuA3 complex show a composite histone tail binding cleft formed by Sas3 and Nto1 that dictates selective acetylation of H3K14. Key terms: NuA3, Sas3, Nto1, H3K14 acetylation, cryo-EM. Study Highlights: The six-subunit NuA3 complex was pur...

Cherdyntseva V et al., Nat Commun - Nucleoplasmic Lamin A/C, together with LAP2α, enforces active replication fork slowing during mild replication stress by promoting local H3K9me3 and ADP-ribosylation to restrain RECQ1-mediated restart and protect genome stability. Key terms: Lamin A/C, replication fork, H3K9me3, PARylation, RECQ1. Study Highlights: Lamin A/C dynamically associates with replicati...

Cortés Guzmán M et al., Nat Commun - This study identifies a pronounced germline mutational hotspot centered on transcription start sites (TSSs) driven in part by early embryonic mosaic variants and transcription-associated DNA damage. Key terms: transcription-start-sites, early-mosaicism, double-strand-breaks, mutational-signatures, promoter-mutations. Study Highlights: Extremely rare variants sh...

Sirvydis K et al., Nat Commun - A recurrent de novo MIDEAS p. Tyr654Ser variant disrupts an autoinhibitory loop in the MiDAC complex, increasing HDAC1 deacetylase activity and causing a multisystem neurodevelopmental disorder. Key terms: MIDEAS, MiDAC, HDAC1, neurodevelopmental disorder, Y654S. Study Highlights: Two unrelated probands carry the same de novo heterozygous MIDEAS p. Tyr654Ser variant...

Wang L et al., Nat Commun - Elevated PCBP2 forms liquid-like condensates that sequester mitochondrial and RNA-binding proteins, stabilize BACE1 mRNA, and promote amyloid pathology while the small molecule CN-0928 reduces PCBP2 via INTS1 to lower Aβ and improve cognition in AD models. Key terms: PCBP2, biomolecular condensates, BACE1, CN-0928, mitochondria. Study Highlights: PCBP2 protein is increa...

Gopal AB et al., Nat Commun - Structural and functional characterization of two group 2 H3 HA stem antibodies, 2F02 and AG2-G02, shows distinct non-overlapping epitopes, protection in mice, and antigenic changes driven by HA2 position 32 that limit AG2-G02 binding. Key terms: influenza H3N2, hemagglutinin stem, broadly neutralizing antibodies, antigenic evolution, vaccine design. Study Highlights:...

Couvreu de Deckersberg E et al., Nat Commun (2025) - This study shows that spontaneous RPE differentiation eliminates most aneuploid human pluripotent stem cells but permits expansion of cells with chromosome 1q gains when they are co-cultured with wild-type cells. Key terms: aneuploidy, 1q gain, RPE differentiation, co-culture, wild-type rescue. Study Highlights: Large-scale single-cell genomics...

Wang S et al., Nat Commun - This study shows that podocyte-derived FGF4 is reduced in DKD and that recombinant FGF4 preserves podocyte survival and glomerular function in diabetic models via FGFR1-AMPK-FOXO1 signaling. Key terms: FGF4, FGFR1, podocyte, AMPK-FOXO1, diabetic kidney disease. Study Highlights: FGF4 expression is downregulated in kidneys from DKD patients and diabetic mouse models and...

Paouneskou D et al., Nature Communications - VRK-1 phosphorylates BAF-1 to remove chromatin from the nuclear periphery during early meiotic prophase in C. elegans, and failure of this step impairs pairing and synapsis and generates heritable genome lesions. Key terms: VRK-1, BAF-1, meiosis, chromatin tethering, genome integrity. Study Highlights: The authors used an auxin-inducible VRK-1 depletion...

Bilir A et al., Wireless in-body sensing through genetically engineered bacteria - A bio-hybrid, battery-free implant converts engineered bacterial activity into microwave backscatter signals by controlled degradation of a biodegradable antenna. Key terms: engineered bacteria, biodegradable antenna, backscatter communication, implantable sensor, cytochrome c. Study Highlights: The AntennAlive syst...

Xiaomeng Jia et al., Berger, Smita S - New single-molecule angular optical trap assays reveal that DNA torsion directly controls T7 replisome stalling and reactivation. Key terms: DNA replication, torsion, replisome, helicase, DNA polymerase. Study Highlights: A high-resolution, label-free angular optical trap (AOT) assay was developed to track T7 replisome-driven DNA rotation and torsional slowin...

Zhou S et al., Nat Commun - This episode examines how the cancer-associated Pol III transcript snaR-A binds core splicing factors, localizes near nuclear speckles, perturbs U2-dependent splicing to increase intron retention, and promotes cell proliferation linked to poorer patient outcomes. Key terms: snaR-A, splicing, SF3B2, intron retention, nuclear speckles. Study Highlights: Proteomic pull-dow...

Kindlova M et al., Nat Commun - Using phased long-read nanopore and short-read sequencing across eight trios, the study maps allele-specific DNA methylation and transcription in female human placentas, identifies hundreds of DMRs and novel imprinted genes, and reports somatic placental variants. Key terms: placenta, nanopore sequencing, DNA methylation, imprinting, allele-specific expression. Stud...

Lilljebjörn H et al., Nat Commun - Single-cell and bulk sequencing of 120 AML cases reveal two NPM1-mutated subtypes with distinct immune evasion mechanisms and divergent responses to hematopoietic stem cell transplantation. Key terms: acute myeloid leukemia, single-cell RNA-seq, NPM1, immune evasion, hematopoietic stem cell transplantation. Study Highlights: Bulk RNA-seq profiles are strongly con...

Hällqvist J et al., Nature Communications - Targeted multi-region lipidomics with proteomic and mitochondrial data reveals region- and stage-specific lipid alterations in Parkinson’s disease that converge on mitochondrial dysfunction. Key terms: lipids, parkinsons disease, putamen, ceramide, plasmalogens. Study Highlights: The study quantified 146 lipid species across eight anatomically distinct p...

Bright U et al., Nat Commun - A large multi-ancestry GWAS meta-analysis identifies a dominant SIM1-linked locus and multiple genetic connections between electronic health record-defined erectile dysfunction and cardiometabolic, psychiatric, and substance-use traits. Key terms: erectile dysfunction, GWAS, SIM1, obesity, polygenic risk. Study Highlights: Meta-analysis of 913,194 European and 125,315...

White MA et al., Nature Communications - FFT and inverse-FFT analysis of Zip3/Zip2, Hop1 and Zip1 on yeast pachytene chromosomes reveals two interdigitated tiers of evenly spaced protein triads that correspond to canonical and minority crossovers and are differentially regulated by Pch2/TRIP13. Key terms: crossover interference, meiotic chromosomes, Zip3/Zip2, Hop1, Pch2. Study Highlights: Quantit...