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)

291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

Kay CJ et al., Nature, doi:10.1038/s41586-025-09808-z - Relaxed-clock dating of pre-LECA gene duplications in Asgard archaeal and alphaproteobacterial lineages shows a complex archaeal host with cytos...

15 Feb 6min

290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

Wirth B et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.012 - Two SMN1 exon 7 4-bp deletions (p.Arg288AlafsTer5) evade standard PCR newborn screening but pr...

15 Feb 19min

290 auf Deutsch: SMN1-Exon-7-Deletionen p.Arg288AlafsTer5 entgehen dem PCR-Neugeborenenscreening und erzeugen dennoch eine funktionelle SMN-Isoform

290 auf Deutsch: SMN1-Exon-7-Deletionen p.Arg288AlafsTer5 entgehen dem PCR-Neugeborenenscreening und erzeugen dennoch eine funktionelle SMN-Isoform

Wirth B et al. (The American Journal of Human Genetics, 2026) — Zwei 4-bp-Deletionen in Exon 7 von SMN1 (p.Arg288AlafsTer5) entgehen dem Standard-PCR-Neugeborenenscreening, erzeugen jedoch ein SMN-Pro...

14 Feb 25min

289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence

289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence

White R et al., F1000Research - Investigation of chimeric reads in MinION nanopore sequencing of short PCR amplicons, focusing on ligation-related artifacts, barcode tracing, and the prevalence of cro...

13 Feb 16min

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

Sun C et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2524504123 - Using cryo-EM and mass spectrometry in rat cerebellum, α1- and α6-containing GABAA receptor assemblies (β‑α‑β‑α‑γ stoichiometry) and ...

12 Feb 16min

287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

Granata J et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2527303123 - In mESCs and defined in vitro assays, EPOP and MTF2 stimulate PRC2 methyltransferase activity and promote de novo H3K27me3 deposi...

11 Feb 18min

286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

Larsen BB et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2529505123 - Deep mutational scanning of the Nipah virus fusion protein F using pseudoviruses maps ~8,500 single-residue effects, showing F is...

10 Feb 19min

285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

Berazategui MA et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2531377123 - ESBX (Tb927.3.1660) links RNA Pol I localization at the ESB to activation of the active BES and repression of inactive BESs ...

9 Feb 19min

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