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Record W2134906837 · doi:10.1093/jhered/esp029

MITF and White Spotting in Dogs: A Population Study

2009· article· en· W2134906837 on OpenAlex
S. M. Schmutz, T. G. Berryere, Dayna L. Dreger

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueJournal of Heredity · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
Topicmelanin and skin pigmentation
Canadian institutionsUniversity of Saskatchewan
Fundersnot available
KeywordsBiologyGeneticsMicrophthalmia-associated transcription factorWhite (mutation)PseudogeneExonGeneTranscription factorGenome

Abstract

fetched live from OpenAlex

This study was designed to determine if one of the variants found in our laboratory, or previously reported in microphthalmiaassociated transcription factor (MITF ), was associated with one or more spotting patterns in dogs. None of the rare variants found in the coding sequence consistently occurred in dogs of any particular spotting pattern. However, an insertion of a short interspersed nucleotide element (SINE) over 3000 bp 5# of the MITF-M start codon Most (319/324) dogs of 45 breeds fit 1 of 2 inheritance patterns. All dogs that were homozygous for the SINE had white markings that either covered at least the ventral surface (mantle pattern) or most of the body (piebald or extreme white spotting). In most breeds, dogs heterozygous for the SINE insertion were solid colored or had minimal white, such as on the toes, but in some others, heterozygotes had white undersides, often with a white collar in the pattern called pseudo-Irish by However, none of the 15 dogs of 5 breeds in which all individuals have markings known as Irish spotting had the SINE insertion. Finally, we studied RNA expression in skin. The 2 MITF-M forms, M that contains an extra 18 bp that adds 6 amino acids between exons 5 and 6 and the M form, were present. MITF-M is considered to be specific to melanocytes but was found in skin from a white Samoyed. A putative pseudogene containing exon 1M was also identified.

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.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.044
Threshold uncertainty score0.142

Codex and Gemma teacher scores by category

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 science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.008
GPT teacher head0.278
Teacher spread0.270 · 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