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Record W4412726366 · doi:10.1016/j.jbc.2025.110522

Molecular basis of the autoregulatory mechanism of motor neuron-related splicing factor 30

2025· article· en· W4412726366 on OpenAlexfundno aff
Keiichi Izumikawa, Sotaro Miyao, Tomomi Suda, Yasuyuki Suda, Ryosuke Kamimura, Maiko Nagai, Minoru Sugihara, Tamotsu Noguchi, Masami Nagahama

Bibliographic record

VenueJournal of Biological Chemistry · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA Research and Splicing
Canadian institutionsnot available
FundersInstitute of GeneticsJapan Society for the Promotion of Science
KeywordsExonRNA splicingIntronAlternative splicingBiologySplice site mutationExon shufflingExon skippingCell biologySplicing factorExonic splicing enhancerPrecursor mRNAGeneticsRNA-binding proteinTandem exon duplicationMessenger RNAGeneRNA

Abstract

fetched live from OpenAlex

Motor neuron-related splicing factor 30 (SPF30, also known as SMNDC1) is a paralog of the survival motor neuron protein that regulates the expression of various genes by affecting mRNA splicing. SPF30 has an autoregulatory mechanism that controls its expression. However, the detailed molecular mechanisms determining cellular levels of SPF30 remain unclear. Here, we demonstrated that SPF30 expression was controlled via the negative autoregulatory feedback, whereby increased SPF30 expression caused the inclusion of cassette exon within intron 2 and/or the generation of a newly spliced variant with exon 4a (produced by splicing 17 bases upstream of the canonical intron 3 and exon 4 junction). Altered transcripts with cassette exon or exon 4a were subjected to nonsense-mediated mRNA decay, leading to reduced SPF30 mRNA levels. Conversely, the loss of SPF30 protein resulted in a drastic reduction in the alternative exon 4a splice site usage compared to cassette exon inclusion, suggesting that alternative splicing at exon 4a contributes more to adjusting SPF30 expression levels. An in vivo splicing assay designed to reflect the usage of alternative exon 4a splice site demonstrated that a short stretch of sequence within exon 4 of SPF30 mRNA was required for the alternative splicing at exon 4a. In addition, the C terminal region of SPF30, particularly the latter part of α-helix and a kink-like structure, was crucial for the autoregulatory mechanism by enabling binding to exon 4a-containing RNA. These results reveal the molecular basis of the autoregulatory mechanism underlying SPF30 gene expression.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.002

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.012
GPT teacher head0.254
Teacher spread0.243 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

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