Utilising Next‐Generation Sequencing to Explore the Molecular Etiology of Short Root Anomaly
Bibliographic record
Abstract
OBJECTIVE: Short Root Anomaly (SRA) is a genetic dental disorder affecting tooth root development. The affected teeth have abnormally short roots and significantly reduced root to crown ratios. The aim of this study was to determine the mode of inheritance and the molecular aetiology of SRA in identified Hispanic families. METHODS: Dental history was taken from 5 Hispanic families. SRA diagnosis was based on 1:1.1 C:R ratios. Whole saliva was collected from eight SRA-affected and five unaffected family members with informed consent. DNA was extracted and processed for whole exome sequencing (WES). Gene mutations associated with SRA were confirmed by Sanger sequencing. Gene expression in dental cells was examined by qRT PCR, and protein localisation was determined by immunocytochemistry. Chromatin immunoprecipitation (ChIP) assay was used to confirm gene regulation. RESULTS: SRA exhibited an autosomal dominant pattern of inheritance in three of the five families examined. The other two families may represent a recessive trait or de novo mutations. WES analysis identified a rare mutation (rs138075877) in the H1C gene of the affected individuals from two of the AD SRA families exhibiting a localised SRA phenotype. We found this gene was differentially expressed in dental mesenchymal and epithelial cells. Finally, ChIP showed that H1C is directly regulated by a root master gene NFIC. CONCLUSION: Our data demonstrates that a mutation in the H1C gene may have a causal role in AD SRA.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".