现代人头骨断面轮廓的性别鉴定——基于几何形态测量的研究北大核心CSCDCSSCI

人类头骨在大小、粗壮度和形状上具有性别差异。长期以来,性别鉴定的方法主要是根据头骨的大小和粗壮度,用肉眼进行粗略观察。受研究方法的限制,忽略了头骨细微的解剖结构及形状差别。为获取头骨性别差异的更多信息,探究头骨断面轮廓的性别差异,本文选用距今300年左右墓葬出土的云南现代人成年男性和女性头骨各30例作为研究材料,利用3D激光扫描技术及逆向工程软件提取头骨断面的外轮廓信息,在此基础上,采用几何形态测量方法对头骨冠状面、矢状面的外轮廓形状的性别差异进行了比较。研究结果显示:男女头骨在冠状面、正中矢状面顶骨部、正中矢状面枕骨部的形状上性别差异不显著,而在正中矢状面额骨部的形状上差异显著。本文对于古人类学和体质人类学鉴定人类头骨的性别差异,以及探讨不同地区、不同时代人群头面部形状的变异具有一定的参考价值。     

现代人头骨断面轮廓的性别鉴定——基于几何形态测量的研究

人类头骨在大小、粗壮度和形状上具有性别差异。长期以来,性别鉴定的方法主要是根据头骨的大小和粗壮度,用肉眼进行粗略观察。受研究方法的限制,忽略了头骨细微的解剖结构及形状差别。为获取头骨性别差异的更多信息,探究头骨断面轮廓的性别差异,本文选用距今300年左右墓葬出土的云南现代人成年男性和女性头骨各30例作为研究材料,利用3D激光扫描技术及逆向工程软件提取头骨断面的外轮廓信息,在此基础上,采用几何形态测量方法对头骨冠状面、矢状面的外轮廓形状的性别差异进行了比较。研究结果显示:男女头骨在冠状面、正中矢状面顶骨部、正中矢状面枕骨部的形状上性别差异不显著,而在正中矢状面额骨部的形状上差异显著。本文对于古人类学和体质人类学鉴定人类头骨的性别差异,以及探讨不同地区、不同时代人群头面部形状的变异具有一定的参考价值。     

现代各主要人群额骨3D几何形态的对比

额骨是连接面颅和脑颅的重要头骨组成部分,关于现代各个人种的额骨形态是否存在明显的差别,这些人种额骨的基本形态如何,变异范围以及与其他人群的相似与差异等问题都尚未完全厘清。而额骨的很多特征由于技术手段的限制很难进行测量和准确的描述比较。鉴于这些问题,本文将采用基于三维表面半标志点的几何形态测量方法,研究东亚现代人额骨的表面形态及其变异范围,并与欧洲,东南亚,美洲,非洲以及澳洲的现代人群的额骨形态进行对比,为对比不同人群的形态研究建立基础数据。结果显示,额骨形态的变异主要表现在:1)额骨鳞部的额结节和正中矢状脊共同向前隆起或回缩以及相对额骨宽度;2)眉弓的粗壮程度,额结节的侧向发育程度和正中矢状脊的发育情况。为了进一步揭示中国现代人与其他人群在额骨形态上的关系,本文还探讨了额骨大小在不同人群中的差异。结果显示,东亚现代人和欧洲现代人额骨中心大小值的中位数最大,澳洲现代人的最小。东亚现代人的额骨形态与澳洲,欧洲和非洲均有非常显著的差异。为了检验额骨的形态是否与遗传距离一致,作者还对额骨形态距离和遗传距离做了相关性分析。结果显示,不同人群的额骨形态与其遗传距离呈显著的相关性,说明本研究结果中不同人群额骨形态上的差异大小可以在一定程度上反映其遗传距离,并可能进一步反映人群历史。东亚现代人的额骨平均形态在与各个人群比较过程中表现出一致性特征,可能在一定程度上反映了东亚现代人群的进化过程是相对独立的。未来额骨的三维几何形态测量可通过扩大标本数量进一步探讨不同性别和不同演化阶段之间的差异。     

中国与非洲近代-现代人类某些颅骨特征的对比及其意义--中国与非洲人类头骨特征对比之二

对近代—现代非洲和中国人群26项颅骨特征的观测和分析显示非洲人具有一些显示其特异性的颅骨特征,但多数特征的表现与东亚人类非常接近,提示现代人群体质特征的趋同性。作者认为非洲人在多数颅骨特征的表现方式上较中国人更为多样化,表明现代非洲人群在体质特征的表现上较东亚人类具有更宽广的形态变异谱。作者基于许多东亚、欧洲及澳洲人类的颅骨特征在非洲人群具有较高的出现率或明显的表现等现象提出一些未来研究中有待解决的问题。     

中国古人类进化连续性新辩

本文通过对一些形态特征的分析说明研究人类起源和进化应该注意的一些思维方法的问题,并且为多地区进化说增添了新的证据:1)中国更新世头骨共同具有的眼眶及其外侧下缘形状等特征在近代头骨中已有所改变,在考虑其意义时不应该忽略时间和基因交流起过的作用;2)中国更新世头骨的共同特征并不因为它们也可见于其他地区而丧失其意义,因为证明连续性的共同特征不需要是地区独有的;3)铲形门齿的结构在近代人中变弱,不削弱它作为连续进化证据的价值,这种弱化的现象是人类进化过程中形态纤巧化的一种表现;4)在辩论时不要对有关形态作不正确的观察和曲解对方的观点和论据;5)头骨正中矢状突隆、下颌圆枕、夹紧状鼻梁和第三臼齿先天性缺失等四项特征在近代非洲人中阙如,却存在于东亚近代人,本文的分析认为这种现象增强多地区进化说的说服力。     

中国和欧洲早期智人的比较研究

中国与欧洲的早期智人头骨在颧骨额蝶突前外侧面的朝向、颧颌角、上颌骨颧突、鼻区、上面部高度、额鼻额颌缝形状、眉间区、矢状脊、印加骨和铲形门齿诸特征的形态或出现率等方面有明显差异。那时此两大地区存在相对独立的人类进化线,其间还有一定程度的基因交流。当时此两地区的人类居群分属于不同的人种。这一假说还可从古文化和古环境的资料得到支持。     

东亚中更新世古人类下颔第二臼齿釉质-齿质连接面三维形状和釉质厚度分布

东亚中更新世古人类在头骨、下颌骨、牙齿等解剖部位表现出不同程度的形态多样性,中期成员代表为直立人,而晚期成员的演化地位具有较大争议。为进一步了解东亚中更新世古人类内部的形态变异特点和为东亚中更新世晚期古人类分类提供依据,本文使用微分同胚的表面匹配（Diffeomorphic Surface Matching, DSM）和形态测量图（Morphometric map）对下颌第二臼齿（M₂）釉质-齿质连接面的形状和齿冠侧面釉质厚度分布模式进行了量化分析。结果显示：1）东亚中更新世古人类与晚期人属成员（尼安德特人和现代人）存在较明显的形态差别;2）该时段晚期的东亚古人类相对中期直立人在侧面釉质厚度分布规律上具有独特性,并在釉质-齿质连接面的三维形状上与晚期人属成员更加接近。本文在以往对东亚中更新世古人类牙齿内外结构单个性状研究的基础上,使用三维形态测量方法进一步量化了M₂釉质-齿质连接面三维形状和侧面釉质厚度分布模式两项重要特征的变异特点,这对未来该时段同类型牙齿的形态鉴定以及解决东亚中更新世晚期古人类的分类地位具有一定意义。     

山东新泰乌珠台人类牙齿的形态学特征

近些年在东亚发现的晚更新世现代人化石及其研究使得关于该地区现代人起源问题更加复杂,更多该时段人类标本的研究有助于对其有更清晰的认识。1966年在山东新泰乌珠台发现一枚古人类下颌臼齿,吴新智和宗冠福(1973)对其进行了报道,而后再无详细研究。本文将使用牙齿非测量性状的半定量化(分级)、齿冠外轮廓形状的几何形态测量、基于显微断层扫描(Micro-computed tomography 或micro-CT)的釉质厚度、釉质厚度分布规律和齿质表面三维结构复原等方法对乌珠台人类牙齿进行综合研究,进而对东亚晚更新世古人类牙齿形态特征变异有一个进一步的了解。结果显示,乌珠台人类牙齿的形态特征基本与现代人接近,但其所表现出的三角座横脊、Y型齿沟排列、原附尖在现代人中出现率较低,而更多发现在直立人或尼安德特人中。相对于东亚其他晚更新世现代人,乌珠台M3所表现出的特征组合具有特殊性,增加了东亚晚更新世现代人的牙齿形态特征多样性。未来研究可尝试测定乌珠台人类牙齿的绝对年代,以更好的将其归入到现代人演化序列中去。     

南京1号与东非Bodo人类头骨化石:对"中心和边缘"假说的检测

"中心和边缘"假说认为非洲是人类演化的中心地区,东亚等地区是边缘地区。在边缘地区,人群的地区性形态特征出现较早,可上溯到直立人生活时期;在中心地区,人群的地区性形态特征出现较晚。Bodo人类头骨化石和南京1号人类头骨化石分别出自中心地区和边缘地区,二者年代都是距今60万年左右,二者都保留有面颅。因此,Bodo人类头骨化石和南京1号人类头骨化石是检测"中心和边缘"假说的最合适的材料。本文是对南京1号和Bodo头骨的面颅测量性特征作比较研究。研究结果表明:1.二者面颅测量性特征上的差别远大于这两个相应地区现代人群之间的差别,提示了人类的地区性体质形态差别早在60万年前就很明显;2.东亚的南京1号人类头骨和东非的Bodo人类头骨尽管同样古老,但各自与当地区的现代人群的面颅上的差异情况并不一致。Bodo头骨与东非现代人群显得差异较大,南京1号头骨与东亚现代人群显得较相近。这种相近,提示了在东亚这个"边缘地区",现代人群的面颅测量性特征可追溯到以南京1号头骨为代表的远古人类那里,而在"中心地区",现代人群的面颅测量性特征还很难与以Bodo为代表的远古人群相联系。本项研究结果与"中心和边缘"假说的推测相符合。     

湖北郧西黄龙洞更新世晚期人类牙齿

对2004—2006年在湖北省郧西县黄龙洞发现的7枚更新世晚期人类牙齿进行了观测与分析, 在此基础上与相关的化石人类及近代现代人类标本进行了对比。本研究发现:黄龙洞人类牙齿总体特征与现代人接近, 同时也保留部分可能属于更新世晚期人类的特点, 包括前部牙齿(侧门齿与犬齿)尺寸及粗壮程度都明显大于现代人。黄龙洞人类牙齿呈现的铲形门齿、双铲形门齿及臼齿釉质延伸说明,当时人类已经具有了东亚人群的典型牙齿形态特征。     

Midfacial morphology of Koreans with class III malocclusions investigated with finite-element scaling analysis

The spheno-ethmoidal model of midfacial retrognathia suggests that deficient chondrocytic proliferation in the anterior cranial base is associated with inadequate anterior translation of the midfacial complex resulting, for example, in Class III malocclusions. The purpose of this study was to determine whether the morphology of the midface differed in subjects of diverse ethnic origin exhibiting features associated with Class III malocclusions. Lateral cephalographs of 142 children of Korean or European American descent aged between 5 and 11 years were compared. The cephalographs were traced and subdivided into seven age- and sex-matched groups. Average geometries, scaled to an equivalent size, were generated using Procrustes superimposition and subjected to analysis of variance (ANOVA). Graphical analysis using a color-coded finite-element scaling analysis (FESA) program was used to localize differences in morphology. Results indicated that the mean Korean and European American midfacial configurations differed statistically (P < 0.01), and this difference was maintained at most, but not all, age-wise comparisons. Comparing Korean and European American Class III midfacial configurations for local size-change, FESA analysis revealed that while local increases in size were apparent in the posterior palatal regions, the Korean anterior nasal spine regions were generally smaller. For shape-change, the Korean and European American midfacial configurations were predominantly isotropic. Therefore, heterogeneity in appearance may be influenced by morphological variation of the midfacial complex in subjects of diverse ethnic origin, but features of the anterior cranial base may contribute also to the prevalence and severity of Class III malocclusions in Koreans. Moreover, perturbations in endochondral mechanisms of cranio-mandibular growth, and not maxillary intramembranous methods, may be implicated in the etiology of Class III malocclusions in South East Asians.     

ACE2 coding variants in different populations and their potential impact on SARS-CoV-2 binding affinity

The susceptibility of different populations to SARS-CoV-2 infection is not yet understood. Here, we combined ACE2 coding variants' analysis in different populations and computational chemistry calculations to probe the effects on SARS-CoV-2/ACE2 interaction. ACE2-K26R; which is most frequent in Ashkenazi Jewish population decreased the SARS-CoV-2/ACE2 electrostatic attraction. On the contrary, ACE2-I468V, R219C, K341R, D206G, G211R increased the electrostatic attraction; ordered by binding strength from weakest to strongest. The aforementioned variants are most frequent in East Asian, South Asian, African and African American, European, European and South Asian populations, respectively.     

Phylogenetic distinctiveness of Middle Eastern and Southeast Asian village dog Y chromosomes illuminates dog origins

Modern genetic samples are commonly used to trace dog origins, which entails untested assumptions that village dogs reflect indigenous ancestry or that breed origins can be reliably traced to particular regions. We used high-resolution Y chromosome markers (SNP and STR) and mitochondrial DNA to analyze 495 village dogs/dingoes from the Middle East and Southeast Asia, along with 138 dogs from >35 modern breeds to 1) assess genetic divergence between Middle Eastern and Southeast Asian village dogs and their phylogenetic affinities to Australian dingoes and gray wolves (Canis lupus) and 2) compare the genetic affinities of modern breeds to regional indigenous village dog populations. The Y chromosome markers indicated that village dogs in the two regions corresponded to reciprocally monophyletic clades, reflecting several to many thousand years divergence, predating the Neolithic ages, and indicating long-indigenous roots to those regions. As expected, breeds of the Middle East and East Asia clustered within the respective regional village dog clade. Australian dingoes also clustered in the Southeast Asian clade. However, the European and American breeds clustered almost entirely within the Southeast Asian clade, even sharing many haplotypes, suggesting a substantial and recent influence of East Asian dogs in the creation of European breeds. Comparison to 818 published breed dog Y STR haplotypes confirmed this conclusion and indicated that some African breeds reflect another distinct patrilineal origin. The lower-resolution mtDNA marker consistently supported Y-chromosome results. Both marker types confirmed previous findings of higher genetic diversity in dogs from Southeast Asia than the Middle East. Our findings demonstrate the importance of village dogs as windows into the past and provide a reference against which ancient DNA can be used to further elucidate origins and spread of the domestic dog.     

The impact of natural selection on an ABCC11 SNP determining earwax type

A nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G>A; Gly180Arg), in the ABCC11 gene determines human earwax type (i.e., wet or dry) and is one of most differentiated nonsynonymous SNPs between East Asian and African populations. A recent genome-wide scan for positive selection revealed that a genomic region spanning ABCC11, LONP2, and SIAH1 genes has been subjected to a selective sweep in East Asians. Considering the potential functional significance as well as the population differentiation of SNPs located in that region, rs17822931 is the most plausible candidate polymorphism to have undergone geographically restricted positive selection. In this study, we estimated the selection intensity or selection coefficient of rs17822931-A in East Asians by analyzing two microsatellite loci flanking rs17822931 in the African (HapMap-YRI) and East Asian (HapMap-JPT and HapMap-CHB) populations. Assuming a recessive selection model, a coalescent-based simulation approach suggested that the selection coefficient of rs17822931-A had been approximately 0.01 in the East Asian population, and a simulation experiment using a pseudo-sampling variable revealed that the mutation of rs17822931-A occurred 2006 generations (95% credible interval, 1,023-3,901 generations) ago. In addition, we show that absolute latitude is significantly associated with the allele frequency of rs17822931-A in Asian, Native American, and European populations, implying that the selective advantage of rs17822931-A is related to an adaptation to a cold climate. Our results provide a striking example of how local adaptation has played a significant role in the diversification of human traits.     

Patterns of Admixture and Population Structure in Native Populations of Northwest North America

The initial contact of European populations with indigenous populations of the Americas produced diverse admixture processes across North, Central, and South America. Recent studies have examined the genetic structure of indigenous populations of Latin America and the Caribbean and their admixed descendants, reporting on the genomic impact of the history of admixture with colonizing populations of European and African ancestry. However, relatively little genomic research has been conducted on admixture in indigenous North American populations. In this study, we analyze genomic data at 475,109 single-nucleotide polymorphisms sampled in indigenous peoples of the Pacific Northwest in British Columbia and Southeast Alaska, populations with a well-documented history of contact with European and Asian traders, fishermen, and contract laborers. We find that the indigenous populations of the Pacific Northwest have higher gene diversity than Latin American indigenous populations. Among the Pacific Northwest populations, interior groups provide more evidence for East Asian admixture, whereas coastal groups have higher levels of European admixture. In contrast with many Latin American indigenous populations, the variance of admixture is high in each of the Pacific Northwest indigenous populations, as expected for recent and ongoing admixture processes. The results reveal some similarities but notable differences between admixture patterns in the Pacific Northwest and those in Latin America, contributing to a more detailed understanding of the genomic consequences of European colonization events throughout the Americas.     

Admixture in Hispanics: distribution of ancestral population contributions in the Continental United States

The effect of gene flow on Hispanic populations from different geographic regions of the United States was analyzed using six autosomal DNA markers (LDLR, GYPA, HBGG, D7S8, GC, and HLA-DQA). By region of sampling, the Hispanic populations showed different ancestry contributions, from a trihybrid structure with European, Native American, and African contributions (California, Nevada, Florida, New Jersey, and Virginia) to a dihybrid structure with European and American contributions (Southwest population) or European and African contributions (Pennsylvania and Southeast population). These findings allowed us to define two regional groups, the West and the East. In the former, Native American contributions ranged from 35.58% to 57.87%; in the East region the values ranged from 0% to 21.27%. An African influence was similar in both regions, ranging from 0% to 17.11%, with a tendency of increasing in the East region. These data reflect the different origins of the Hispanic populations that led to the present ones. In the West, Hispanics are mostly of Mexican origin, and in the East, they are predominantly of Cuban and Puerto Rican origin.     

Historical demography of common carp estimated from individuals collected from various parts of the world using the pairwise sequentially markovian coalescent approach

The inference of historical demography of a species is helpful for understanding species’ differentiation and its population dynamics. However, such inference has been previously difficult due to the lack of proper analytical methods and availability of genetic data. A recently developed method called Pairwise Sequentially Markovian Coalescent (PSMC) offers the capability for estimation of the trajectories of historical populations over considerable time periods using genomic sequences. In this study, we applied this approach to infer the historical demography of the common carp using samples collected from Europe, Asia and the Americas. Comparison between Asian and European common carp populations showed that the last glacial period starting 100 ka BP likely caused a significant decline in population size of the wild common carp in Europe, while it did not have much of an impact on its counterparts in Asia. This was probably caused by differences in glacial activities in East Asia and Europe, and suggesting a separation of the European and Asian clades before the last glacial maximum. The North American clade which is an invasive population shared a similar demographic history as those from Europe, consistent with the idea that the North American common carp probably had European ancestral origins. Our analysis represents the first reconstruction of the historical population demography of the common carp, which is important to elucidate the separation of European and Asian common carp clades during the Quaternary glaciation, as well as the dispersal of common carp across the world.