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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Avsnitt(441)

273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear element via horizontal transfer

273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear element via horizontal transfer

Gori K et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2424634122 - In canine transmissible venereal tumor (CTVT), deep sequencing and cytogenetics identify a 15‑Mb horizontally transferred nuclear el...

28 Jan 18min

272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior

272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior

Ju X-C et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2508540122 - Human-specific ADSL A429V substitution and a common regulatory haplotype reduce ADSL activity and raise purine substrates in the bra...

27 Jan 22min

271: Rising EA PGI prediction of educational attainment across 1946–1970 British birth cohorts and socioeconomic interaction

271: Rising EA PGI prediction of educational attainment across 1946–1970 British birth cohorts and socioeconomic interaction

Morris TT et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2516460123 - EA and cognition polygenic indexes (PGIs) in three British birth cohorts show EA PGI associations with years of education increas...

25 Jan 19min

270: Human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negatively supercoiled DNA measured by optical tweezers

270: Human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negatively supercoiled DNA measured by optical tweezers

Spakmana D et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2406949123 - Optical tweezers and fluorescence imaging show human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes highly negatively s...

25 Jan 22min

269: Mlh1–Pms1 endonuclease creates single-strand gaps to excise mispairs in S. cerevisiae MMR

269: Mlh1–Pms1 endonuclease creates single-strand gaps to excise mispairs in S. cerevisiae MMR

Palacio T et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2528670122 - Reconstituted Saccharomyces cerevisiae mismatch repair shows the Mlh1–Pms1 endonuclease directly generates single-strand gaps to ...

24 Jan 20min

268: M493I in human β-cardiac myosin: SRX disruption, slow ADP release, and enhanced actin attachment

268: M493I in human β-cardiac myosin: SRX disruption, slow ADP release, and enhanced actin attachment

Cail RC et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2521561122 - Recombinant human β-cardiac myosin M493I studied by optical trapping and stopped-flow kinetics disrupts the super-relaxed state and...

23 Jan 22min

267: DNA base-pair opening modes and soliton-like loops revealed by hydrogen exchange

267: DNA base-pair opening modes and soliton-like loops revealed by hydrogen exchange

Englander SW et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2520855122 - Hydrogen exchange (H-T and NMR H-H) on DNA and RNA reveals two distinct base-pair opening modes: single-base microsecond openi...

22 Jan 21min

266: TOP1α and TOP3β Differentially Regulate HPV31 Replication via R-loops and DNA Breaks

266: TOP1α and TOP3β Differentially Regulate HPV31 Replication via R-loops and DNA Breaks

Vatsa A et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2526296123 - In HPV31-positive keratinocytes (CIN612), TOP1α and TOP3β are upregulated and required for viral transcription and replication, act...

21 Jan 17min

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