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)

236: XPD translocation and genetic disease etiology

236: XPD translocation and genetic disease etiology

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 disru...

22 Des 202519min

235: Maternal H3K9 methyltransferases control aRMAE in C. elegans

235: Maternal H3K9 methyltransferases control aRMAE in C. elegans

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...

21 Des 202517min

234: MTHFR genotype and methionine metabolism predict COVID-19 severity

234: MTHFR genotype and methionine metabolism predict COVID-19 severity

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 hosp...

20 Des 202520min

233: NuA3 structure reveals the mechanism of H3K14 acetylation

233: NuA3 structure reveals the mechanism of H3K14 acetylation

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 ...

19 Des 202518min

232: Lamin A/C steers fork restart via H3K9me3 and PARylation

232: Lamin A/C steers fork restart via H3K9me3 and PARylation

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-ribosylatio...

18 Des 202517min

231: Transcription start sites as a germline mutational hotspot

231: Transcription start sites as a germline mutational hotspot

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 t...

17 Des 202517min

230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome

230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome

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 neu...

17 Des 202518min

229: Inhibiting PCBP2 condensates in Alzheimer’s

229: Inhibiting PCBP2 condensates in Alzheimer’s

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 mole...

15 Des 202519min

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