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Record W7143690414 · doi:10.15083/0002004759

オセアニア地域集団の進化史 : ゲノムから見た混血と自然選択

2020· dissertation· en· W7143690414 on OpenAlexfundno aff
Mariko Isshiki-Segawa

Bibliographic record

VenueInstitutional Repositories DataBase (IRDB) · 2020
Typedissertation
Languageen
FieldEngineering
TopicMilitary Technology and Strategies
Canadian institutionsnot available
FundersInstitute of GeneticsJapan Society for the Promotion of Science
KeywordsPolynesiansMitochondrial DNAGenetic similarityNatural selectionGenetic genealogyAdaptation (eye)Ancient DNA

Abstract

fetched live from OpenAlex

The present Oceanian populations are considered to have derived from admixture of Papuan-and Asian-related ancestors.Papuan-related ancestors were the ancestors of modern Papuans and Aboriginal Australians, who colonized Near Oceania about 50,000 years ago, and Asian-related ancestors were Austronesian (AN)-speaking population, called Lapita, who migrated from Southeast Asia about 3,500 years ago.The major aim of this thesis is to elucidate the demographic history and adaptation of Oceanian populations.In Chapter 2, I analyzed mitochondrial DNA (mtDNA) and sex chromosomes of Oceanian populations.From the mtDNA analysis of three Oceanian populations living in the New Georgia Islands of the Solomon Islands, genetic similarity between AN-speaking Melanesians in the New Georgia Islands and Polynesians was revealed in maternal lineage, suggesting that Polynesian ancestors may have passed through the vicinity of the New Georgia Islands before their expansion to Remote Oceania (Section 1) .The previous studies on haplotype variations of mtDNA and Y chromosome suggested that sex-biased admixture (i.e., females primarily from Asian-related ancestry and males from Papuan-related ancestry) occurred in ancestors of Oceanian populations.In Section 2, to examine sex-biased admixture in Polynesians, the whole genome sequencing data including autosomes, sex chromosomes and mtDNA of Tongans were analyzed and QFST, an estimator of the ratio of effective population size on the X chromosome to that of the autosomes based on the measure of genetic differentiation (FST), was calculated between Tonga and Han Chinese from Beijing (CHB) and between Tonga and Gidra, a modern Papuan population in the lowlands of Western Province, Papua New Guinea.Corresponding to the previous studies, my results corroborated sex-biased admixture in ancestral populations of Tonga but the bias was likely to be not large.In Chapter 3, to assess the effect of admixture on the adaptation of AN-speaking Melanesians in the Solomon Islands, genome-wide SNP data of Munda, an AN-speaking Melanesian population in the New Georgia Islands of the Solomon Islands, were analyzed.I revealed that the Munda people were genetically related to other populations from the Solomon Islands and 51-57% of Munda genomes were estimated to be derived from Papuan-related ancestry when assuming CHB and Gidra as Asian-and Papuan-related ancestors, respectively.Two genomic regions which spanned more than 1 Mbp respectively showed significant proportions of Papuan-and Asian-related ancestry and were suspected to have experienced natural selection.The high Papuan-related ancestry region was located in the HLA class II region and the high Asian-related ancestry region contained the annexin A1 (ANXA1) gene.Since these genes have important roles in immune system, infectious diseases may be one of the possible driving forces of the selection.In Chapter 4, natural selection in Polynesians were detected in two different approaches.In Section 1, natural selection acted over the genomic regions derived from Papuanrelated ancestry was detected by estimating local ancestry across Tonga genomes assuming CHB and Gidra as Asian-and Papuan-related ancestors.The genome-wide proportion of Papuan-related ancestry was estimated about 25-33% in Tonga genomes.Two genomic regions which showed Papuan-related ancestry proportion higher than mean + 5 SD (~68%) were suspected to be shaped by positive selection.One was located in extended major histocompatibility complex regions and the other contained the ATP-binding cassette protein C11 (ABCC11).A nonsynonymous SNP on the ABCC11 (rs17822931) is known to affect apocrine secretory cell function and determine ear wax type.The ancestral allele (C) of rs17822931, wet ear wax allele, was frequently observed in Oceanian populations and likely to have undergone positive selection.Considering that Papuan-related ancestors have inhabited

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)0.001
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 score0.007
Threshold uncertainty score0.024

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0070.002

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 head0.010
GPT teacher head0.227
Teacher spread0.217 · 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
Published2020
Admission routes1
Has abstractyes

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