【摘要】：人類(Homo sapiens)起源、遷徙和進(jìn)化對(duì)現(xiàn)代人類遺傳多樣性具有重要的塑造作用,一直是多學(xué)科研究熱點(diǎn).分子遺傳學(xué)通過(guò)現(xiàn)有人群的遺傳數(shù)據(jù)和表型特征來(lái)推導(dǎo)、演繹歷史事件,提出了"走出非洲完全替換"人類起源模型.在走出非洲遷居世界各地的過(guò)程中,不同環(huán)境對(duì)人類表型和遺傳多樣性具有重要的選擇作用,如人群膚色、身高等外形特征以及乳糖耐受、淀粉代謝、免疫應(yīng)答和低氧適應(yīng)等生理特征的表型和遺傳多態(tài)性演化過(guò)程.近年來(lái)興起的人類古DNA研究,通過(guò)采集對(duì)應(yīng)事件前、中、后不同時(shí)期的古DNA樣本,進(jìn)行全基因組測(cè)序,同時(shí)系統(tǒng)比較古DNA和現(xiàn)今人群遺傳多態(tài)性,補(bǔ)充和完善了經(jīng)典分子遺傳學(xué)研究結(jié)果,可以更全面地分析人類演化歷史.基于古基因組研究,學(xué)者提出了人類起源的"走出非洲基因滲透"模型,并對(duì)上述重要人類表型和遺傳多態(tài)性的演化史提出了新的證據(jù)和觀點(diǎn).本文將對(duì)現(xiàn)有人類環(huán)境適應(yīng)的古DNA研究進(jìn)展進(jìn)行綜述,并據(jù)此對(duì)自然選擇如何塑造人類遺傳和表型多態(tài)性展開(kāi)新的討論,為今后同類研究提供線索.
[Abstract]:The origin, migration and evolution of Homo sapiens play an important role in shaping modern human genetic diversity. Molecular genetics deduces historical events through genetic data and phenotypic characteristics of existing populations, and puts forward a human origin model of "out of Africa completely replaced". In moving out of Africa to live around the world, different environments play an important role in the selection of human phenotypic and genetic diversity, such as skin color, height and other external characteristics, lactose tolerance, starch metabolism, etc. Phenotypic and genetic polymorphism evolution of physiological characteristics such as immune response and hypoxia adaptation. In recent years, the study of human ancient DNA was developed. By collecting samples of ancient DNA from different periods before, during and after the corresponding events, the whole genome was sequenced, and the genetic polymorphisms of ancient DNA and present population were compared systematically. The research results of classical molecular genetics are supplemented and perfected, which can analyze the history of human evolution more comprehensively. Based on the study of paleogenomics, a model of "gene penetration out of Africa" of human origin was proposed, and new evidence and views on the evolutionary history of the above important human phenotypic and genetic polymorphisms were put forward. This paper will review the progress of ancient DNA research on adaptation to human environment, and discuss how natural selection can shape human genetic and phenotypic polymorphism, which will provide clues for similar studies in the future.
【作者單位】： 寧波大學(xué)醫(yī)學(xué)院生物化學(xué)與分子生物學(xué)系;中國(guó)科學(xué)院昆明動(dòng)物研究所遺傳資源與進(jìn)化國(guó)家重點(diǎn)實(shí)驗(yàn)室;寧波大學(xué)醫(yī)學(xué)院預(yù)防醫(yī)學(xué)系;寧波大學(xué)醫(yī)學(xué)院臨床醫(yī)學(xué)系;云南大學(xué)生物資源保護(hù)與利用國(guó)家重點(diǎn)實(shí)驗(yàn)室;
【基金】：國(guó)家自然科學(xué)基金(81402747) 浙江省自然科學(xué)基金(LQ13C060001) 寧波市自然科學(xué)基金(2016A610085)資助
【分類號(hào)】：Q981

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