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Modeling the Development of Cleft Lip and Palate in Variable Clefting Mouse Strains

2019· article· en· W3174515790 on OpenAlexafffund
Rebecca M. Green, Courtney L. Leach, Sihan Guo, Virginia M. Diewert, Ralph Marcucio, Benedikt Hallgrímsson

Bibliographic record

VenueThe FASEB Journal · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCleft Lip and Palate Research
Canadian institutionsUniversity of British ColumbiaUniversity of Calgary
FundersNational Institute of Dental and Craniofacial ResearchCanadian Institutes of Health Research
KeywordsRetrotransposonPenetranceBiologyEpigeneticsGeneGeneticsMorphogenesisPhenotypeAlleleStrain (injury)GenotypeGenomeAnatomyTransposable element

Abstract

fetched live from OpenAlex

Epigenetic modifications in A‐strain mice can lead to cleft lip and palate (CLP). All A‐strain mice have a retrotransposon present near the Wnt9b gene, yet, two A‐strain mice cleft at very different rates. A/WySn clefts at 25% while A/J clefts at 5%, yet each line isogenic . The difference in clefting rates is thought to be due to changes in methylation of the retrotransposon. This variation in the penetrance of clefting among strains makes this an interesting model for human orofacial clefting as CLP is also variably penetrant in humans. Here, we test the hypothesis that these mice have subtle variations in 3D cell proliferation and apoptosis that cause variation in the shape of the facial tissues during crucial steps of facial formation, leading to CLP. Further, we predict these changes in proliferation, apoptosis and morphology correlate with Wnt9b levels . Genome changes between related A‐strain mice with different CLP levels also suggest that other loci may be involved in the variable clefting present in these mice. Combined, these results imply that variation in gene expression within a genotype leads to variation in cellular dynamics and the resulting morphogenesis, producing CLP leading to cleft development in a subset of A‐strain mice. Support or Funding Information NIH NIDCR R01 DE019638 to RS and BH. CIHR Foundation Grant to BH and RS. CIHR Postdoctoral Fellowship to RG. This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .

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: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.023
GPT teacher head0.270
Teacher spread0.247 · 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 designSimulation or modeling
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

Citations0
Published2019
Admission routes2
Has abstractyes

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