Base by Base

Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Episoder(444)

260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics

260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics

Nature Communications - Transcription start sites experience a high influx of heritable variants fueled by early development Music:Enjoy the music based on this article at the end of the episode. Ar...

15 Jan 16min

259: Ku filaments that hold DNA together

259: Ku filaments that hold DNA together

Zahid S et al., Nature Communications, doi:10.1038/s41467-025-65609-y - Cryo-EM and biophysical analyses show Mycobacterium tuberculosis Ku assembles into DNA-bound oligomeric filaments that synapse D...

14 Jan 17min

258: Correcting GC bias in metagenomes

258: Correcting GC bias in metagenomes

Holcik L et al., Nature Communications, doi:10.1038/s41467-025-65530-4 - GuaCAMOLE is an alignment-free algorithm that estimates and removes genomic GC-content-dependent sequencing bias to produce mor...

13 Jan 17min

257: PSMC5: proteasomes, immunity and neurodevelopment

257: PSMC5: proteasomes, immunity and neurodevelopment

Küry S et al., Nature Communications, doi:10.1038/s41467-025-65556-8 - This study describes 26 distinct PSMC5 variants in 44 individuals and demonstrates that PSMC5 loss impairs proteasome function, d...

12 Jan 18min

256: Compartmental control of VSG silencing

256: Compartmental control of VSG silencing

Antunes et al., Nature Communications - The study shows that spatial segregation of core and subtelomeric chromosome compartments, demarcated by protein-rich boundaries and controlled by a phosphoinos...

11 Jan 18min

255: Lipids, Ions and the AE1 Elevator

255: Lipids, Ions and the AE1 Elevator

Chen T et al., Nature Communications - Cryo-EM structures, uptake assays, and molecular dynamics show that PIP2 lipids bind at the AE1 dimer interface and inhibit the OF⇌IF conformational transition w...

10 Jan 19min

254: Rescuing the replisome at a nick

254: Rescuing the replisome at a nick

Winterhalter et al., Nature Communications - Cas9 nickases in Bacillus subtilis show that single-strand nicks in either template strand arrest DNA replication, create single-end double-strand breaks, ...

9 Jan 19min

253: Nap1 and histone acetylation tune chromatin condensates

253: Nap1 and histone acetylation tune chromatin condensates

Gao J et al., Nature Communications - H4 tail lysine residues drive liquid-liquid phase separation of 12‑mer nucleosome arrays, while H3 tail acetylation and the histone chaperone Nap1 increase intern...

8 Jan 20min

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