人类种群在生物学和基因上并不是离散的

IF 3.2 2区 心理学 Q1 PSYCHOLOGY, MULTIDISCIPLINARY
Martin S. Fischer, Johannes Krause
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There is no biological justification for categorizing people into discrete groups; on the contrary, racism seeks a biological legitimation in its justification.</p><p>This Special Issue takes up the enormous challenge of how to deal with the realization that ‘race’ in humans is not a scientifically tenable category but that ‘race’ permeates psychological processing (Editorial of this Special Issue) especially in fields of psychology, for which the term is constitutive, such as the ‘other-‘race’-effect’. Other sciences may be curious to see how psychology discusses the downgrading of ‘races’ to groups of increasingly higher resolution or, for example, the individual-differences approach, and finally how giving up a concept may open new doors and provide new opportunities.</p><p>People have been categorizing each other based on appearance for millennia, as is still shown by the ongoing controversy on ancient Egyptian ‘races’. 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Those characteristics would be linked to the population ancestry of its bearer.</p><p>Differences between human populations were further imagined using biological concepts, such as morphospecies, reflecting a static worldview, in which species were defined by certain characteristics selected by systematists. In essence, human groups were seen as immutable ‘classes’ (Mahner &amp; Bunge, <span>1997</span>). This, however, does not reflect objective biology but rather represents a flawed construct of the human mind. Taxonomy is a rather static way of thinking, uninfluenced by the idea of evolution.</p><p>The central question was, and still is, the relationship of between-group variation (intergroup variation) to individual variability within a group (intragroup variation). Our view of human biological history began, however, to transform in the 1960s with the advent of molecular biology and its application to population genetics (Lewontin, <span>1972</span>). Molecular evidence provided new criteria to observe speciation processes and taxonomic divisions, which were readily applied to human populations. After early studies on simple biological markers such as blood groups, mitochondrial DNA and Y-chromosomes (Cavalli-Sforza et al., <span>1994</span>), recent years have seen an explosion of studies on human genetic diversity due to the advent of high-throughput DNA sequencing technologies, deciphering the genomes of millions of people. These genomic studies focus on polymorphic sites in the human genome, that is variants in the DNA sequence, also known as single nucleotide polymorphisms (SNPs) that vary between individuals and that change over time according to stochastic processes of neutral evolution. Most of these SNPs are not located in genes and therefore have no effect on phenotype. Populations that have recently separated still have many SNPs in common, only over many generations this proportion would decrease. Each person carries between 4 and 7 million SNPs and millions of larger structural variants, compared to the human reference genome (The 1000 Genomes Project Consortium, <span>2015</span>). There are orders of magnitude more such genetic variants than morphological traits on which classical taxonomy was based.</p><p>With genomic analysis, the genetic history and relatedness of populations can be traced in detail, while also explicitly disproving earlier and current notions of ‘race’. Studies revealed that the genetic variability within any given human population is almost as high as the variation between human populations (The 1000 Genomes Project Consortium, <span>2015</span>). Not even one position in the genome has been found that represents a fixed difference between all individuals of two continental populations. This fact also includes genetic variation contributed from extinct human lineages, such as Neanderthal DNA in non-Africans, and Denisovan DNA in contemporary people from Southeast Asia and Oceania. It is rather the frequencies of genetic variants that differ between human populations. Humans are a relatively young species in evolutionary terms; the genetic effects of geographic isolation that resulted from settling the entire world in the last 50,000 years are minor and have been often overwritten by secondary admixture events (Lazaridis et al., <span>2016</span>).</p><p>A small subset of this genetic variation <i>will</i> have phenotypic consequences. An example of local adaptation are genes involved in skin pigmentation polymorphism. Increased melanin levels giving rise to darker complexion are selected for in lower latitudes in order to protect from UV radiation, while lower melanin levels giving rise to lighter complexion are favourable in higher latitudes to facilitate Vitamin D synthesis which depends on UV exposure (see also Editorial of the Special Issue Box 1). The later mechanism is known since the 1930s (Murray, <span>1934</span>), however, only analysis of human genomes from the past has shown that Ice Age European hunter gatherers were mostly dark-skinned, and the high prevalence of light-skin pigmentation was only reached in Europe during the Bronze Age (Mathieson et al., <span>2015</span>). Our current understanding is that early dark-skinned farming societies had to adapt to low Vitamin D diets and higher latitudes by developing light-skin pigmentation to spread into central and northern Europe (Krause &amp; Trappe, <span>2019</span>).</p><p>Categorizing human groups based on skin colour makes thus little sense, as this trait reflects latitude as a proxy for UV exposure rather than population history. Skin pigmentation is additionally far from a binary trait with countless tones that change gradually in relationship to proximity to the equator. Gradients of variability are the rule in human populations and not discrete boundaries. Genome-wide association studies (GWAS) with increasing sample size and ethnic diversity, like a recent one concerning tobacco and alcohol consumption (Saunders et al., <span>2022</span>), show that ancestry has weak predictive power, emphasizing that phenotypic- and underlying genetic variation are present deep within human ancestry rather than only existing between them. 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There is no biological justification for categorizing people into discrete groups; on the contrary, racism seeks a biological legitimation in its justification.</p><p>This Special Issue takes up the enormous challenge of how to deal with the realization that ‘race’ in humans is not a scientifically tenable category but that ‘race’ permeates psychological processing (Editorial of this Special Issue) especially in fields of psychology, for which the term is constitutive, such as the ‘other-‘race’-effect’. Other sciences may be curious to see how psychology discusses the downgrading of ‘races’ to groups of increasingly higher resolution or, for example, the individual-differences approach, and finally how giving up a concept may open new doors and provide new opportunities.</p><p>People have been categorizing each other based on appearance for millennia, as is still shown by the ongoing controversy on ancient Egyptian ‘races’. In the 19th century, early evolutionary thinking began to remodel this practice of classifying human groups using phenotypes, culminating in ideas of superior human ‘races’ and eugenics. An influential figure here is Herbert Spencer, who conceived the term ‘evolution’ before and differently from Darwin (Köchy, <span>2007</span>), and from whom the expression ‘survival of the fittest’ originated. He founded ‘biological Spencerism’ in Victorian England (Freeman et al., <span>1974</span>), Social Darwinism (even before German biologist Ernst Haeckel) and the supposedly biologically based form of white superiority. According to his theory, different groups of people would have inherent and distinct characteristics, which are displayed, for example, in the colour of their skin. Those characteristics would be linked to the population ancestry of its bearer.</p><p>Differences between human populations were further imagined using biological concepts, such as morphospecies, reflecting a static worldview, in which species were defined by certain characteristics selected by systematists. In essence, human groups were seen as immutable ‘classes’ (Mahner &amp; Bunge, <span>1997</span>). This, however, does not reflect objective biology but rather represents a flawed construct of the human mind. Taxonomy is a rather static way of thinking, uninfluenced by the idea of evolution.</p><p>The central question was, and still is, the relationship of between-group variation (intergroup variation) to individual variability within a group (intragroup variation). Our view of human biological history began, however, to transform in the 1960s with the advent of molecular biology and its application to population genetics (Lewontin, <span>1972</span>). Molecular evidence provided new criteria to observe speciation processes and taxonomic divisions, which were readily applied to human populations. After early studies on simple biological markers such as blood groups, mitochondrial DNA and Y-chromosomes (Cavalli-Sforza et al., <span>1994</span>), recent years have seen an explosion of studies on human genetic diversity due to the advent of high-throughput DNA sequencing technologies, deciphering the genomes of millions of people. These genomic studies focus on polymorphic sites in the human genome, that is variants in the DNA sequence, also known as single nucleotide polymorphisms (SNPs) that vary between individuals and that change over time according to stochastic processes of neutral evolution. Most of these SNPs are not located in genes and therefore have no effect on phenotype. Populations that have recently separated still have many SNPs in common, only over many generations this proportion would decrease. 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This fact also includes genetic variation contributed from extinct human lineages, such as Neanderthal DNA in non-Africans, and Denisovan DNA in contemporary people from Southeast Asia and Oceania. It is rather the frequencies of genetic variants that differ between human populations. Humans are a relatively young species in evolutionary terms; the genetic effects of geographic isolation that resulted from settling the entire world in the last 50,000 years are minor and have been often overwritten by secondary admixture events (Lazaridis et al., <span>2016</span>).</p><p>A small subset of this genetic variation <i>will</i> have phenotypic consequences. An example of local adaptation are genes involved in skin pigmentation polymorphism. Increased melanin levels giving rise to darker complexion are selected for in lower latitudes in order to protect from UV radiation, while lower melanin levels giving rise to lighter complexion are favourable in higher latitudes to facilitate Vitamin D synthesis which depends on UV exposure (see also Editorial of the Special Issue Box 1). The later mechanism is known since the 1930s (Murray, <span>1934</span>), however, only analysis of human genomes from the past has shown that Ice Age European hunter gatherers were mostly dark-skinned, and the high prevalence of light-skin pigmentation was only reached in Europe during the Bronze Age (Mathieson et al., <span>2015</span>). 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Genome-wide association studies (GWAS) with increasing sample size and ethnic diversity, like a recent one concerning tobacco and alcohol consumption (Saunders et al., <span>2022</span>), show that ancestry has weak predictive power, emphasizing that phenotypic- and underlying genetic variation are present deep within human ancestry rather than only existing between them. 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引用次数: 0

摘要

科学依赖于概念的有效性,尤其是当这些概念来自其他学科时。人类群体根据表型(例如皮肤颜色)的差异,似乎是如此明显,以至于几个世纪后,只有遗传学才能从根本上改变这一概念。50年来,人们一直试图摆脱种族分类,其中包括最近的《2019年耶拿宣言》(Fischer et al., 2019)。没有生物学上的理由把人分成不同的群体;相反,种族主义在其辩护中寻求生物学上的正当性。本期特刊提出了一个巨大的挑战,即如何认识到人类的“种族”并不是一个科学上站住脚的范畴,而是“种族”渗透到心理过程中(本期特刊社论),特别是在心理学领域,这个术语是构成要素,比如“他者-“种族”-效应。其他科学可能会好奇地看到心理学如何讨论将“种族”降级为分辨率越来越高的群体,或者,例如,个体差异方法,以及最终放弃一个概念如何打开新的大门并提供新的机会。几千年来,人们一直根据外貌对彼此进行分类,关于古埃及“种族”的争论至今仍在继续。在19世纪,早期的进化思想开始重塑这种使用表型对人类群体进行分类的做法,最终产生了优越人类“种族”和优生学的想法。赫伯特·斯宾塞(Herbert Spencer)是这里的一位有影响力的人物,他在达尔文之前提出了“进化”一词,但与达尔文不同(Köchy, 2007),“适者生存”一词也是从他那里起源的。他在维多利亚时代的英国创立了“生物斯宾塞主义”(Freeman et al., 1974),社会达尔文主义(甚至在德国生物学家恩斯特·海克尔之前)和所谓的基于生物学的白人优越论。根据他的理论,不同的人群会有固有的和独特的特征,这些特征表现在他们的肤色上。这些特征将与携带者的种群血统有关。人类种群之间的差异进一步利用生物学概念,如形态物种,反映了一种静态的世界观,在这种世界观中,物种是由系统学家选择的某些特征来定义的。从本质上讲,人类群体被视为不可改变的“类”(Mahner &;邦基集团,1997年)。然而,这并不能反映客观的生物学,而是代表了人类思维的一种有缺陷的结构。分类学是一种相当静态的思维方式,不受进化观念的影响。中心问题过去是,现在仍然是,组间变异(组间变异)与组内个体变异(组内变异)的关系。然而,在20世纪60年代,随着分子生物学的出现及其在群体遗传学中的应用,我们对人类生物学历史的看法开始发生转变(Lewontin, 1972)。分子证据为观察物种形成过程和分类划分提供了新的标准,这些标准很容易应用于人类群体。在对血型、线粒体DNA和y染色体等简单生物标记进行早期研究之后(Cavalli-Sforza et al., 1994),近年来,由于高通量DNA测序技术的出现,对人类遗传多样性的研究出现了爆炸式增长,破译了数百万人的基因组。这些基因组研究的重点是人类基因组中的多态位点,即DNA序列中的变异,也称为单核苷酸多态性(snp),在个体之间存在差异,并且根据中性进化的随机过程随时间而变化。这些snp大多不在基因中,因此对表型没有影响。最近分离的种群仍然有许多共同的snp,只是在许多代之后,这个比例会减少。与人类参考基因组相比,每个人携带400万至700万个snp和数百万个更大的结构变异(the 1000 Genomes Project Consortium, 2015)。这种遗传变异的数量级比经典分类学所依据的形态特征要多。通过基因组分析,可以详细地追溯种群的遗传历史和亲缘关系,同时也明确地反驳了早期和当前的“种族”概念。研究表明,任何特定人群内的遗传变异几乎与人群之间的变异一样高(the 1000 Genomes Project Consortium, 2015)。在基因组中甚至没有发现一个位置代表两个大陆种群的所有个体之间的固定差异。 这一事实也包括来自已灭绝人类谱系的基因变异,比如非非洲人身上的尼安德特人DNA,以及东南亚和大洋洲当代人身上的丹尼索瓦人DNA。而是不同人群之间基因变异的频率不同。从进化的角度来看,人类是一个相对年轻的物种;在过去的5万年里,人类在整个世界定居所造成的地理隔离的遗传影响很小,并且经常被二次混合事件所覆盖(Lazaridis等人,2016)。这种遗传变异的一小部分将产生表型后果。局部适应的一个例子是与皮肤色素多态性有关的基因。在低纬度地区,黑色素水平的增加导致肤色变深是为了防止紫外线辐射,而在高纬度地区,黑色素水平的降低导致肤色变浅有利于促进维生素D的合成,而维生素D的合成取决于紫外线照射(另见特刊专栏1的社论)。然而,后一种机制自20世纪30年代以来就已为人所知(Murray, 1934)。仅对过去人类基因组的分析就表明,冰河时代的欧洲狩猎采集者大多是深色皮肤,浅色皮肤色素沉着的高流行率仅在青铜时代的欧洲才达到(Mathieson et al., 2015)。我们目前的理解是,早期深色皮肤的农业社会必须通过发展浅色皮肤色素来适应低维生素D饮食和高纬度地区,并传播到中欧和北欧(克劳斯&Trappe, 2019)。因此,根据肤色对人类群体进行分类是没有意义的,因为这种特征反映的是纬度,而不是人口历史。此外,皮肤色素沉着远不是一个二元特征,有无数的色调随着靠近赤道而逐渐改变。变异的梯度是人类种群的规律,而不是离散的边界。随着样本量和种族多样性的增加,全基因组关联研究(GWAS),如最近关于烟草和酒精消费的研究(Saunders et al., 2022),表明祖先具有较弱的预测能力,强调表型和潜在的遗传变异存在于人类祖先的深处,而不仅仅存在于他们之间。最后但并非最不重要的是,这不仅是一个变异性感知的问题,而且是人脸识别能力的问题,这里是熟悉面孔和不熟悉面孔感知之间的定性差异(Jenkins等人,2018),这与本期特刊的主题密切相关。两位作者均声明没有利益冲突。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Human populations are not biologically and genetically discrete

Science relies on the validity of concepts, especially when these come from other disciplines. The differentiation of human groups according to phenotypic appearance, for example the colour of their skin, seemed so obvious that after centuries only genetics could fundamentally revise this concept. For 50 years, attempts have been made to break away from racial categorization, among others in the recent Jena Declaration of 2019 (Fischer et al., 2019). There is no biological justification for categorizing people into discrete groups; on the contrary, racism seeks a biological legitimation in its justification.

This Special Issue takes up the enormous challenge of how to deal with the realization that ‘race’ in humans is not a scientifically tenable category but that ‘race’ permeates psychological processing (Editorial of this Special Issue) especially in fields of psychology, for which the term is constitutive, such as the ‘other-‘race’-effect’. Other sciences may be curious to see how psychology discusses the downgrading of ‘races’ to groups of increasingly higher resolution or, for example, the individual-differences approach, and finally how giving up a concept may open new doors and provide new opportunities.

People have been categorizing each other based on appearance for millennia, as is still shown by the ongoing controversy on ancient Egyptian ‘races’. In the 19th century, early evolutionary thinking began to remodel this practice of classifying human groups using phenotypes, culminating in ideas of superior human ‘races’ and eugenics. An influential figure here is Herbert Spencer, who conceived the term ‘evolution’ before and differently from Darwin (Köchy, 2007), and from whom the expression ‘survival of the fittest’ originated. He founded ‘biological Spencerism’ in Victorian England (Freeman et al., 1974), Social Darwinism (even before German biologist Ernst Haeckel) and the supposedly biologically based form of white superiority. According to his theory, different groups of people would have inherent and distinct characteristics, which are displayed, for example, in the colour of their skin. Those characteristics would be linked to the population ancestry of its bearer.

Differences between human populations were further imagined using biological concepts, such as morphospecies, reflecting a static worldview, in which species were defined by certain characteristics selected by systematists. In essence, human groups were seen as immutable ‘classes’ (Mahner & Bunge, 1997). This, however, does not reflect objective biology but rather represents a flawed construct of the human mind. Taxonomy is a rather static way of thinking, uninfluenced by the idea of evolution.

The central question was, and still is, the relationship of between-group variation (intergroup variation) to individual variability within a group (intragroup variation). Our view of human biological history began, however, to transform in the 1960s with the advent of molecular biology and its application to population genetics (Lewontin, 1972). Molecular evidence provided new criteria to observe speciation processes and taxonomic divisions, which were readily applied to human populations. After early studies on simple biological markers such as blood groups, mitochondrial DNA and Y-chromosomes (Cavalli-Sforza et al., 1994), recent years have seen an explosion of studies on human genetic diversity due to the advent of high-throughput DNA sequencing technologies, deciphering the genomes of millions of people. These genomic studies focus on polymorphic sites in the human genome, that is variants in the DNA sequence, also known as single nucleotide polymorphisms (SNPs) that vary between individuals and that change over time according to stochastic processes of neutral evolution. Most of these SNPs are not located in genes and therefore have no effect on phenotype. Populations that have recently separated still have many SNPs in common, only over many generations this proportion would decrease. Each person carries between 4 and 7 million SNPs and millions of larger structural variants, compared to the human reference genome (The 1000 Genomes Project Consortium, 2015). There are orders of magnitude more such genetic variants than morphological traits on which classical taxonomy was based.

With genomic analysis, the genetic history and relatedness of populations can be traced in detail, while also explicitly disproving earlier and current notions of ‘race’. Studies revealed that the genetic variability within any given human population is almost as high as the variation between human populations (The 1000 Genomes Project Consortium, 2015). Not even one position in the genome has been found that represents a fixed difference between all individuals of two continental populations. This fact also includes genetic variation contributed from extinct human lineages, such as Neanderthal DNA in non-Africans, and Denisovan DNA in contemporary people from Southeast Asia and Oceania. It is rather the frequencies of genetic variants that differ between human populations. Humans are a relatively young species in evolutionary terms; the genetic effects of geographic isolation that resulted from settling the entire world in the last 50,000 years are minor and have been often overwritten by secondary admixture events (Lazaridis et al., 2016).

A small subset of this genetic variation will have phenotypic consequences. An example of local adaptation are genes involved in skin pigmentation polymorphism. Increased melanin levels giving rise to darker complexion are selected for in lower latitudes in order to protect from UV radiation, while lower melanin levels giving rise to lighter complexion are favourable in higher latitudes to facilitate Vitamin D synthesis which depends on UV exposure (see also Editorial of the Special Issue Box 1). The later mechanism is known since the 1930s (Murray, 1934), however, only analysis of human genomes from the past has shown that Ice Age European hunter gatherers were mostly dark-skinned, and the high prevalence of light-skin pigmentation was only reached in Europe during the Bronze Age (Mathieson et al., 2015). Our current understanding is that early dark-skinned farming societies had to adapt to low Vitamin D diets and higher latitudes by developing light-skin pigmentation to spread into central and northern Europe (Krause & Trappe, 2019).

Categorizing human groups based on skin colour makes thus little sense, as this trait reflects latitude as a proxy for UV exposure rather than population history. Skin pigmentation is additionally far from a binary trait with countless tones that change gradually in relationship to proximity to the equator. Gradients of variability are the rule in human populations and not discrete boundaries. Genome-wide association studies (GWAS) with increasing sample size and ethnic diversity, like a recent one concerning tobacco and alcohol consumption (Saunders et al., 2022), show that ancestry has weak predictive power, emphasizing that phenotypic- and underlying genetic variation are present deep within human ancestry rather than only existing between them. Last but not least, it is not only a problem of variability perception, but also of face recognition abilities and here of qualitative differences between the perception of familiar and unfamiliar faces (Jenkins et al., 2018), which are closely related to the topic of this Special Issue.

Both authors declare no conflict of interest.

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来源期刊
British journal of psychology
British journal of psychology PSYCHOLOGY, MULTIDISCIPLINARY-
CiteScore
7.60
自引率
2.50%
发文量
67
期刊介绍: The British Journal of Psychology publishes original research on all aspects of general psychology including cognition; health and clinical psychology; developmental, social and occupational psychology. For information on specific requirements, please view Notes for Contributors. We attract a large number of international submissions each year which make major contributions across the range of psychology.
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