Implications of Histone Deacetylases in Developmental Disorders
Bibliographic record
Abstract
Epigenetics play a critical role in regulating gene expression.Many proteins with a wide range of different functions and subcellular localizations play a role in epigenetics.Epigenetic modifications on DNA or histones can impact gene expression, and the epigenetic landscape changes constantly.Known modifications include phosphorylation, acetylation, methylation, ubiquitination, succinylation, crotonylation, propionolyation and sumoylation among others.Several groups in the early 1990s conducted the first studies which established a link between acetylated core histones and transcriptionally active genes.The acetyl group is attached to lysine residues on histones by histone acetyltransferases (HATs) and removed by histone deacetylases (HDACs).It was previously thought that highly acetylated histones cause the chromatin to be in a looser configuration due to the removal of the positive charge on lysine residues of histone tails.This modification allows the DNA to be more accessible to transcription factors whilst low levels of histone acetylation are associated with more condensed DNA and a transcriptionally repressed state, resulting from the stronger interaction between the positively charged lysine tails on histones and the negatively charged DNA backbone.The current understanding of acetylation and epigenetic regulation is more complex, with "writers", "readers", and "erasers" interacting in conjunction to interpret specific epigenetic marks and subsequently affect gene expression.In humans, there are many known acetylases and deacetylases but how mutations in these genes cause genetic diseases in humans remains unanswered.In this project, we explored histone deacetylase 3 (HDAC3) in complex with silencing mediator for retinoid and thyroid receptor (SMRT) and the other associated proteins.HDAC3 is a class I HDAC and is one of the proteins that regulate the VII
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.001 |
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.
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 source (direct Gemma or distilled Codex), 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".