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Record W2019981271 · doi:10.1002/ajmg.a.33021

Perspectives on<i>RUNX</i>genes: An update

2009· review· en· W2019981271 on OpenAlexaff
M. Michael Cohen

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2009
Typereview
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsDalhousie University
Fundersnot available
KeywordsBiologyRUNX1Gene silencingGeneGeneticsPromoterCore binding factorTranscription factorMolecular biologyGene expression

Abstract

fetched live from OpenAlex

This perspective on RUNX genes discusses their basic biological features, including their DNA-binding alpha subunit, their non-DNA binding beta subunit, and their Runt domain. The evolution of Runx genes begins with one most like Runx3 in invertebrates, progresses to four genes in Drosophila, and to three in vertebrates. Runx genes have two promoters and various numbers of exons and isoforms. All three genes with expressions in the same biological tissues act either synergistically or at different time periods. Runx genes have downstream target genes. Furthermore, Runx genes are mediated by TGFbeta or BMP pathways. They also have cohesin-dependent regulation. Runx1 binds the CD4 silencer and represses transcription in immature double negative thymocytes. Runx1 also activates CD8 as the double negative population progresses to double positive thymocytes. Runx3 establishes epigenetic silencing in CD4 - CD8+ cytotoxic T-cells by binding the CD4 silencer core sequence. Runx1 may also be involved in CD4 silencing in CD8+ T-cells. RUNX1 mutations cause familial thrombocytopenia with a propensity for developing acute myelogenous leukemia; two functional consequences of these mutations include haploinsufficiency and a dominant negative effect. The latter tends to be associated with a higher frequency of leukemia. RUNX2 mutations cause cleidocranial dysplasia; most are of the missense type and commonly occur in the Runt domain. RUNX3 is a tumor suppressor gene with hemizygous deletion of one allele and hypermethylation of the other, resulting in gastric adenocarcinoma.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.987
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0040.001
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.003
Insufficient payload (model declined to judge)0.0010.000

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 head0.050
GPT teacher head0.416
Teacher spread0.366 · 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 teacher head, not a consensus.

Study designOther design
Domainnot available
GenreReview

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

Citations148
Published2009
Admission routes1
Has abstractyes

Explore more

Same venueAmerican Journal of Medical Genetics Part ASame topicAcute Myeloid Leukemia ResearchFrench-language works237,207