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Record W2953041939 · doi:10.82308/54464

Reciprocal regulation of DNA binding of the paired domain and homedomain of Pax3

2006· article· en· W2953041939 on OpenAlexfundno aff
Sergio Apuzzo

Bibliographic record

VenueeScholarship@McGill (McGill) · 2006
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsnot available
FundersCanadian Institutes of Health ResearchMcGill University
KeywordsPAX3MutantDNABinding siteDNA-binding domainChemistryTranscription factorBiologyGeneticsMolecular biologyGene

Abstract

fetched live from OpenAlex

Pax3 is a gene that encodes for a transcription factor involved in embryogenesis. Pax3 heterozygote mutants in mice (Splotch) and humans (Waardenburg Syndrome) exhibit pigmentary disturbances. Also, neural tube defects (spina bifida) develop in homozygous splotch mice. Pax3 has 2 DNA binding domains, a paired Domain (PD), and a paired-type homeodomain (HD). We have used site-specific modification of single Cys Pax3 mutants (in a Cys-less backbone) to probe structure: function relationships. N-Ethyl maleimide (NEM) modification of a single Cys in the PD (C82) abrogates DNA binding by the PD but also by the HD. Likewise, NEM modification of V263C in the HD abrogates DNA binding by both the HD and the PD. These results demonstrate that the PD and HD do not function as independent DNA binding modules in Pax3, but are functionally interdependent. Pax3 was also modified by insertion of Factor Xa protease sites in either the PD (Xa100) or the HD (Xa216). The effect of DNA binding by the PD and HD on conformational changes in the other domain was monitored by accessibility of the Factor Xa site. Binding by the PD causes a structural change not only in the PD but also in the HD; similarly, DNA binding by the HD causes a conformational change in the PD. These results provide a structural basis for the functional interdependence of the PD and HD in Pax3. Site-specific modification of single Cys mutants was further used to identify a cluster of solvent exposed residues in the beta-hairpin structure and in the first 2 helices of the PD, which when modified (with NEM) impair DNA binding by the HD. Three-dimensional modeling shows that these residues form a hydrophobic pocket possibly defining the site of interaction of the HD. Pax3 double cysteine mutants were also generated and used with bifunctional cysteine specific reagents to monitor proximity relationships in Pax3. We have observed that cysteines placed in the N-terminal portion of the HD can be crosslinked with cysteines placed in the putative HD interaction pocket in the PD, suggesting proximity of the two segments. Taken together, these results suggest that residues in or close to the PD helix 2 and those in or close to the N-terminal arm of the HD undergo direct physical interaction, which we postulate is responsible of the functional interdependence we observe between the PD and HD of Pax3.

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 score0.002
Threshold uncertainty score0.007

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 science0.0000.001
Research integrity0.0000.000
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 head0.007
GPT teacher head0.184
Teacher spread0.177 · 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

Citations0
Published2006
Admission routes1
Has abstractyes

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