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Record W2128600945 · doi:10.1002/ajmg.a.32037

Genetics of sexual development: A new paradigm

2007· review· en· W2128600945 on OpenAlexaff
Stan R. Blecher, Robert P. Erickson

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2007
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsUniversity of Guelph
FundersLuonnontieteiden ja Tekniikan Tutkimuksen ToimikuntaMedical Research Council
KeywordsTestis determining factorGonadBiologySexual differentiationDevelopment of the gonadsGeneticsSexual characteristicsSecondary sex characteristicEndocrinologyGeneSexual dimorphismAutosomeDisorders of sex developmentOvaryInternal medicineY chromosomeHormoneX chromosome

Abstract

fetched live from OpenAlex

The classical paradigm of human and mammalian sexual development, largely based on work of Alfred Jost, depicts the genetic factor(s) that determine(s) sex as influencing only the fate of the gonad. A maleness factor produces testes (Primary Sex Determination). These organs secrete hormones which cause male Secondary Sexual Differentiation. In absence of the maleness factor, by default the gonad becomes an ovary, and the absence of testicular hormones leads to female secondary differentiation. In this article a new paradigm is proposed, to accommodate recent findings. Sexual dimorphism precedes gonadal development, in a Pregonadal Stage. Furthermore, female development is not by default-both male (Y) and female (X) sex-chromosomal primary sex-determining mechanisms probably exist. The human/mammalian male Y-chromosomal sex-determining gene is now known (SRY/Sry), and a candidate for a non-inactivated, X-linked, female determining factor, is under study. However, the proximate gonad-determining genes are probably on autosomes. Pathways between the primary factors and the proximate gonad-determining genes are indirect and complex. A hypothetical gene Z has been proposed, that inhibits the testis determiner and is itself the target of suppression by SRY/Sry. Candidates for proximate testis and ovary-determining factors and for Z also exist. The "default" concept has also been superseded with respect to secondary sexual differentiation. Absence of testicular hormones does not produce a normal female phenotype; ovarian genes and hormones are necessary. Finally, sex-chromosomal sex-determining genes influence the development not only of non-gonadal organs of secondary sexual development, but also of organs outside of the reproductive system.

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)0.003
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.015
Scholarly communication0.0030.007
Open science0.0020.002
Research integrity0.0030.006
Insufficient payload (model declined to judge)0.0030.001

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.

Opus teacher head0.053
GPT teacher head0.370
Teacher spread0.318 · 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 designNot applicable
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

Citations74
Published2007
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesFrench-language works237,207