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Record W4404144371 · doi:10.1101/2024.11.06.622331

Archaic Adaptive Introgression in Modern Human Reproductive Genes

2024· preprint· en· W4404144371 on OpenAlexaff
Christopher Kendall, Amin Nooranikhojasteh, Esteban J. Parra, Michael A. Schillaci, Bence Viola

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2024
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Mapping and Diversity in Plants and Animals
Canadian institutionsThe Scarborough HospitalPrincess Margaret Cancer CentreUniversity Health NetworkUniversity of Toronto
Fundersnot available
KeywordsIntrogressionGeneEvolutionary biologyBiologyGeographyGenetics

Abstract

fetched live from OpenAlex

Abstract Modern humans and archaic hominins, namely Denisovans and Neanderthals, have been demonstrated to have a long history of admixture. Specifically, some of these admixture events have been adaptive and allowed modern humans to adapt to their new environments outside of Africa. Little research has been done on the impact of archaic introgression on genes associated with reproduction. In this study we report evidence of putative adaptive introgression of 118 genes within modern humans that have been previously associated with reproduction in mice or modern humans. From these genes we identified 11 archaic core haplotypes, three that have been positively selected. Additionally, we found that 327 archaic alleles have genome-wide significance for a variety of traits and 308 of these variants were discovered to be eQTLs regulating 176 genes. We highlight that 81% of the archaic eQTLs overlapping a core haplotype region regulate genes expressed in ovaries, prostate, testes, and vagina compared to other tissues. We also found that several of the putatively adaptively introgressed genes in our results are enriched in developmental and cancer pathways. Further, some of these genes have been associated with embryo development and reproductive-inhibiting phenotypes like preeclampsia. Lastly, we found that archaic alleles overlapping an introgressed segment on chromosome 2 are protective against prostate cancer. Taken together, our results describe how archaic haplotypes, when introduced into a modern human background, may be important in regulating development across the lifespan of an individual.

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)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.017
GPT teacher head0.233
Teacher spread0.216 · 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 designObservational
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
Published2024
Admission routes1
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic Mapping and Diversity in Plants and Animals→French-language works237,207→