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Mitochondrial Genome of an 8,400-Year-Old Individual from Northern China Reveals a Novel Subclade Under C5d. 中国北方8400年前个体的线粒体基因组揭示了C5d下的新亚支系。
4区 生物学 Q2 Medicine Pub Date : 2019-02-17 DOI: 10.13110/humanbiology.91.1.04
Xiyan Wu, Chao Ning, Qingchuan Bao, Shizhu Gao, Fan Zhang, Sihao Wu, Tianjiao Li, Linyuan Fan, Tao Li, Xuan Yang, Dawei Cai, Yinqiu Cui

Ancient DNA studies have always refreshed our understanding of the human past that cannot be tracked by modern DNA alone. Until recently, ancient mitochondrial genomic studies in East Asia were still very limited. Here, we retrieved the whole mitochondrial genome of an 8,400-year-old individual from Inner Mongolia, China. Phylogenetic analyses show that the individual belongs to a previously undescribed clade under haplogroup C5d that most probably originated in northern Asia and may have a very low frequency in extant populations that have not yet been sampled. We further characterized the demographic history of mitochondrial haplogroups C5 and C5d and found that C5 experienced a sharp increase in population size starting around 4,000 years before present, the time when intensive millet farming was developed by populations who are associated with the Lower Xiajiadian culture and was widely adopted in northern China. We caution that people related to haplogroup C5 may have added this farming technology to their original way of life and that the various forms of subsistence may have provided abundant food sources and further contributed to the increase in population size.

古代DNA研究总是刷新我们对人类过去的理解,而这是单靠现代DNA无法追踪的。直到最近,东亚的古代线粒体基因组研究仍然非常有限。在这里,我们检索了来自中国内蒙古的一个8400岁的个体的整个线粒体基因组。系统发育分析表明,该个体属于先前未被描述的单倍群C5d下的分支,该分支最有可能起源于亚洲北部,在尚未采样的现存种群中出现的频率可能很低。我们进一步描述了线粒体单倍群C5和C5d的人口历史,发现C5的人口规模从距今4000年左右开始急剧增加,这是与下夏家店文化相关的人群发展集约化谷子耕作的时期,并在中国北方广泛采用。我们警告说,与C5单倍群相关的人可能已经将这种农业技术添加到他们原始的生活方式中,各种形式的生存可能提供了丰富的食物来源,并进一步促进了人口规模的增长。
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引用次数: 1
How the Atacama Skeleton Might Advance Discussion of Responsible Conduct of Research Responsibilities. 阿塔卡马骷髅如何推进研究责任的负责任行为的讨论。
4区 生物学 Q2 Medicine Pub Date : 2019-02-17 DOI: 10.13110/humanbiology.91.1.01
Thomas May, Mariko Nakano-Okuno

Controversies resulting from genetic testing on skeletal remains of disputed stewardship raise important questions about obligations inherent on genetic researchers to assure ethical chain of custody. In this article, we analyze and evaluate several proposed positions on whether such research should be published. Following jurisprudential standards for legitimate regulatory systems, we argue that responsible conduct of research requires reasonable attention to chain of custody but cannot require guarantees, particularly in cases of ancient remains.

对有争议的管理的骨骼遗骸进行基因检测引起的争议提出了关于遗传研究人员固有义务的重要问题,以确保道德监管链。在本文中,我们分析和评估了关于是否应该发表这类研究的几种建议立场。根据合法监管体系的法理标准,我们认为负责任的研究行为需要合理关注监管链,但不能要求保证,特别是在古代遗骸的情况下。
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引用次数: 0
Stephen L. Zegura (2 July 1943-26 May 2019). 斯蒂芬·泽古拉(1943年7月2日- 2019年5月26日)。
4区 生物学 Q2 Medicine Pub Date : 2019-02-17 DOI: 10.13110/humanbiology91.1.03
Rebecca Rogers Ackermann, Michelle Bezanson, Michael Hammer, David Raichlen
2Human Evolution Research Institute, University of Cape Town, Cape Town, South Africa. 3Department of Anthropology, Santa Clara University, Santa Clara, California, USA. 4ARL Division of Biotechnology, University of Arizona, Tucson, Arizona, USA. 5Department of Biological Sciences, University of Southern California, Los Angeles, California, USA. *Correspondence to: Rebecca Rogers Ackermann, University of Cape Town, Department of Archaeology, Rondebosch 7701, Cape Town, South Africa. E-mail: becky.ackermann@uct.ac.za.
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引用次数: 0
Stephen L. Zegura (2 July 1943–26 May 2019) 斯蒂芬·泽古拉(1943年7月2日- 2019年5月26日)
4区 生物学 Q2 Medicine Pub Date : 2019-01-01 DOI: 10.13110/humanbiology.91.1.03
Ackermann,Bezanson,Hammer,Raichlen
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引用次数: 0
Open-Source Tools for Dense Facial Tissue Depth Mapping of Computed Tomography Models 计算机断层扫描模型密集面部组织深度映射的开源工具
4区 生物学 Q2 Medicine Pub Date : 2018-11-09 DOI: 10.1353/hub.2017.0044
Terrie Simmons-Ehrhardt, C. Falsetti, A. Falsetti, C. Ehrhardt
abstract:Computed tomography (CT) scans provide anthropologists with a resource to generate three-dimensional (3D) digital skeletal material to expand quantification methods and build more standardized reference collections. The ability to visualize and manipulate the bone and skin of the face simultaneously in a 3D digital environment introduces a new way for forensic facial approximation practitioners to access and study the face. Craniofacial relationships can be quantified with landmarks or with surface-processing software that can quantify the geometric properties of the entire 3D facial surface. This article describes tools for the generation of dense facial tissue depth maps (FTDMs) using deidentified head CT scans of modern Americans from the Cancer Imaging Archive public repository and the open-source program Meshlab. CT scans of 43 females and 63 males from the archive were segmented and converted to 3D skull and face models using Mimics and exported as stereolithography files. All subsequent processing steps were performed in Meshlab. Heads were transformed to a common orientation and coordinate system using the coordinates of nasion, left orbitale, and left and right porion. Dense FTDMs were generated on hollowed, cropped face shells using the Hausdorfff sampling filter. Two new point clouds consisting of the 3D coordinates for both skull and face were colorized on an RGB (red-green-blue) scale from 0.0 (red) to 40.0-mm (blue) depth values and exported as polygon (PLY) file format models with tissue depth values saved in the "vertex quality" field. FTDMs were also split into 1.0-mm increments to facilitate viewing of common depths across all faces. In total, 112 FTDMs were generated for 106 individuals. Minimum depth values ranged from 1.2 mm to 3.4 mm, indicating a common range of starting depths for most faces regardless of weight, as well as common locations for these values over the nasal bones, lateral orbital margins, and forehead superior to the supraorbital border. Maximum depths were found in the buccal region and neck, excluding the nose. Individuals with multiple scans at visibly diffferent weights presented the greatest diffferences within larger depth areas such as the cheeks and neck, with little to no diffference in the thinnest areas. A few individuals with minimum tissue depths at the lateral orbital margins and thicker tissues over the nasal bones (>3.0 mm) suggested the potential influence of nasal bone morphology on tissue depths. This study produced visual quantitative representations of the face and skull for forensic facial approximation research and practice that can be further analyzed or interacted with using free software. The presented tools can be applied to preexisting CT scans, traditional or cone beam, adult or subadult individuals, with or without landmarks, and regardless of head orientation, for forensic applications as well as for studies of facial variation and facial growth. In contrast with other
计算机断层扫描(CT)为人类学家提供了生成三维(3D)数字骨骼材料的资源,以扩展量化方法并建立更标准化的参考馆藏。在3D数字环境中同时可视化和操纵面部骨骼和皮肤的能力为法医面部近似从业者提供了一种访问和研究面部的新方法。颅面关系可以通过地标或表面处理软件进行量化,该软件可以量化整个3D面部表面的几何特性。本文描述了使用来自癌症成像档案公共存储库和开源程序Meshlab的现代美国人的未识别头部CT扫描生成致密面部组织深度图(ftdm)的工具。使用Mimics对43名女性和63名男性的CT扫描进行分割并转换为3D头骨和面部模型,并导出为立体光刻文件。所有后续处理步骤均在Meshlab中完成。利用原子坐标、左轨道坐标和左右分量坐标,将头部转换为共同的方位和坐标系。使用豪斯多夫采样滤波器在中空、裁剪的面壳上生成密集的ftdm。两个新的点云由头骨和面部的3D坐标组成,在RGB(红绿蓝)尺度上从0.0(红色)到40.0 mm(蓝色)的深度值上色,并导出为多边形(PLY)文件格式模型,组织深度值保存在“顶点质量”字段中。ftdm也被分成1.0毫米的增量,以方便观察所有面的共同深度。总共为106个人生成了112个ftdm。最小深度值范围从1.2毫米到3.4毫米,这表明了大多数面部的共同起始深度范围,无论体重如何,以及这些值在鼻骨、外侧眶缘和高于眶上边界的前额上的共同位置。除鼻子外,最大深度在颊区和颈部。在体重明显不同的情况下进行多次扫描的个体,在较深的区域(如脸颊和颈部)表现出最大的差异,在最薄的区域几乎没有差异。少数个体眶外侧缘组织深度最小,鼻骨上组织较厚(>3.0 mm),提示鼻骨形态对组织深度的潜在影响。这项研究为法医面部近似研究和实践提供了面部和头骨的视觉定量表示,可以进一步分析或使用免费软件进行交互。所提出的工具可以应用于预先存在的CT扫描,传统或锥束,成人或亚成人个体,有或没有地标,不考虑头部方向,用于法医应用以及面部变化和面部生长的研究。与其他面部测绘研究相比,该方法基于可复制的几何关系生成头骨和面部点,产生多种数据输出,这些数据输出易于使用开放访问的软件读取。
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引用次数: 5
New Approaches to Juvenile Age Estimation in Forensics: Application of Transition Analysis via the Shackelford et al. Method to a Diverse Modern Subadult Sample 法医学中青少年年龄估计的新方法:通过Shackelford等人的过渡分析的应用。方法:不同现代亚成人标本
4区 生物学 Q2 Medicine Pub Date : 2018-11-09 DOI: 10.1353/hub.2017.0048
Kelly R. Kamnikar, Nicholas P. Herrmann, A. Plemons
abstract:Dental development is one of the most widely utilized and accurate methods available for estimating age in subadult skeletal remains. The timing of tooth growth and development is regulated by genetics and less afffected by external factors, allowing reliable estimates of chronological age. Traditional methodology focuses on comparing tooth developmental scores to corresponding age charts. Using the Moorrees, Fanning, and Hunt (MFH) developmental scores, Shackelford and colleagues embed the dental development method in a statistical framework based on transition analysis. They generated numerical parameters underlining each "stage" and age-at-death distribution and applied them to fossil hominins and Neanderthals with limited application to modern humans. We use this same method on a subadult test sample (n = 201), representing modern individuals that may become part of the forensic record. We assess the probability coverage of the Shackelford et al. method derived from MFH standards as it applies to all available dentition. Results indicate promise: the age range at 90% and 95% confidence levels includes the chronological age of almost every individual tested. The maximum likelihood age estimates underestimate age by 0.5–2.5 years for individuals 0–15 years of age and by >2.5 years for individuals 16–18 years of age, as previously shown. In an attempt to refine the method, we adjusted the numerical parameters underlying the stages for developing teeth based on a combined modern reference sample (n = 1,964) and tested these revised parameters using the same test sample. The estimated ages from the modified method difffer from the original Shackelford et al. methodology by underestimating age to a lesser degree. The modified method does include mean age-at-attainment values for earlier stages of several teeth, allowing for the calculation of narrower confidence intervals. While this study highlights areas of future research in refining dental developmental aging by transition analysis, it also demonstrates that the Shackelford et al. method is applicable and accurate when aging modern subadults in forensic work.
牙齿发育是估计亚成人骨骼遗骸年龄最广泛和最准确的方法之一。牙齿生长和发育的时间受基因的影响,受外部因素的影响较小,因此可以可靠地估计实际年龄。传统的方法侧重于将牙齿发育评分与相应的年龄图表进行比较。利用Moorrees, Fanning, and Hunt (MFH)发育评分,Shackelford和同事将牙齿发育方法嵌入到基于过渡分析的统计框架中。他们生成了强调每个“阶段”和死亡年龄分布的数值参数,并将其应用于古人类化石和尼安德特人,但对现代人的应用有限。我们对亚成人测试样本(n = 201)使用相同的方法,代表可能成为法医记录一部分的现代个体。我们评估了来自MFH标准的Shackelford等方法的概率覆盖率,因为它适用于所有可用的牙列。结果显示出希望:在90%和95%置信水平上的年龄范围包括几乎每个被测试个体的实足年龄。如前所述,最大似然年龄估计对0-15岁的个体低估了0.5-2.5岁,对16-18岁的个体低估了>2.5岁。为了改进该方法,我们根据合并的现代参考样本(n = 1964)调整了牙齿发育阶段的数值参数,并使用相同的测试样本测试了这些修改后的参数。修正后的方法估计的年龄与最初的Shackelford等人的方法不同,低估了年龄的程度较小。修改后的方法确实包括了几颗牙齿早期发育阶段的平均年龄值,允许计算更窄的置信区间。虽然这项研究强调了通过过渡分析来细化牙齿发育老化的未来研究领域,但它也表明,Shackelford等人的方法在法医工作中对现代亚成人进行老化时是适用的和准确的。
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引用次数: 0
Who Needs Data? I've Got Experience! 谁需要数据?我有经验!
4区 生物学 Q2 Medicine Pub Date : 2018-11-09 DOI: 10.1353/hub.2017.0047
D. Steadman
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引用次数: 0
Genetic Variants of Duffy and Hemoglobin S Genes in an Afrodescendant Population from Colombia 哥伦比亚非裔人群中Duffy和血红蛋白S基因的遗传变异
4区 生物学 Q2 Medicine Pub Date : 2018-11-01 DOI: 10.13110/humanbiology.90.4.02
D. C. Ortega, H. Cárdenas, G. Barreto
abstract Malaria is an endemic disease in a large part of Colombia, and the city of Buenaventura reports one of the highest malaria infection rates. Some genetic variants confer resistance to malaria, such as the heterozygote for hemoglobin S (HbS) and the homozygous variant FYBES/FYBES of the Duffy gene. The aim of this work was the molecular characterization of these genes in an Afrodescendant population from the urban area of Buenaventura. A total of 819 individuals from a stratified random sampling in each of the 12 communities of this city were analyzed. Molecular analysis was performed using PCR-RFLP, and data analysis was performed using Arlequin 3.5, SPSS 20.0, and R 3.4.1. Frequencies of 3.1% and 72.2% were obtained for the S and FYBES alleles, respectively, with 6.1% AS heterozygous and 55% FYBES/FYBES homozygous genotypes. The highest percentages of the resistant genotype (genotypic combination AA*FYBES/FYBES) were found for the 13–27-year age group (8.2%) and communities 1 and 3 (18% and 10.3%, respectively). Therefore, it would be pertinent to consider the remaining communities and age groups when performing epidemiological studies and preventive and health care campaigns on malaria in the urban areas of the city of Buenaventura.
疟疾是哥伦比亚大部分地区的一种地方病,布埃纳文图拉市是疟疾感染率最高的城市之一。一些遗传变异赋予了对疟疾的抵抗力,例如血红蛋白S (HbS)的杂合子和Duffy基因的纯合子变体FYBES/FYBES。这项工作的目的是在布埃纳文图拉城市地区的非洲后裔人群中对这些基因进行分子表征。对该城市12个社区的819名个体进行分层随机抽样分析。采用PCR-RFLP进行分子分析,数据分析采用Arlequin 3.5、SPSS 20.0和R 3.4.1。S和FYBES等位基因的频率分别为3.1%和72.2%,其中AS杂合基因型为6.1%,FYBES/FYBES纯合基因型为55%。耐药基因型(AA*FYBES/FYBES基因型组合)比例最高的是13 ~ 27岁年龄组(8.2%)和社区1和社区3(分别为18%和10.3%)。因此,在布埃纳文图拉市市区开展流行病学研究和疟疾预防和保健运动时,应考虑到其余的社区和年龄组。
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引用次数: 2
Complexity, Genetic Causation, and Hereditarianism 复杂性、遗传因果和遗传主义
4区 生物学 Q2 Medicine Pub Date : 2018-11-01 DOI: 10.13110/humanbiology.90.4.05
C. Roseman
abstract Hereditarians have claimed that recent advances in psychological and psychiatric genetics support their contention that socially important aspects of behavior and cognition in individuals and groups are largely insensitive to environmental context. This has been countered by anti-hereditarians who (correctly) claim that the conclusion of genetic ineluctability is false. Anti-hereditarians, however, sometimes use problematic arguments based on complexity and the ignorance that comes with complexity and a demand for mechanistic, as opposed to variational, explanations for the ways in which genes affect phenotype. I argue here, as a committed anti-hereditarian, that the complexity gambit and the demand for mechanisms open anti-hereditarian arguments to counterattack from hereditarians. Refocusing the argument onto issues about when heritability, genotypic scores, and genome-wide association studies may be appropriately applied and reemphasizing the point that context matters are stronger measures to counter hereditarian claims.
遗传学家声称,心理和精神遗传学的最新进展支持了他们的论点,即个人和群体的行为和认知的社会重要方面在很大程度上对环境背景不敏感。这遭到了反遗传论者的反驳,他们(正确地)声称基因不可避免性的结论是错误的。然而,反遗传主义者有时会使用一些有问题的论点,这些论点基于复杂性和随之而来的无知,以及对基因影响表型方式的机械解释的需求,而不是变异解释。作为一名坚定的反遗传主义者,我在这里认为,复杂性的策略和对机制的需求使反遗传主义者的论点受到了遗传主义者的反击。重新将争论的焦点集中在何时可以适当地应用遗传性、基因型得分和全基因组关联研究的问题上,并再次强调上下文因素是反对遗传主义主张的更强有力的措施。
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引用次数: 2
Ontogenesis of the Sella Turcica among Egyptians: Forensic and Radiological Study 埃及人图西卡鞍的个体发生:法医和放射学研究
4区 生物学 Q2 Medicine Pub Date : 2018-11-01 DOI: 10.13110/humanbiology.90.4.04
Wafaa Mohamed El-Sehly, Fatma Mohamed Magdy Badr El Dine, M. Shaban
abstract The sella turcica has gained importance as a stable bony landmark in cephalometric studies. This study explored the changes that accompany postnatal ontogeny of the sella turcica until full development and verified its contribution in age estimation and sexual assignment among Egyptians. Six selected measurements of the sella turcica of 215 Egyptian patients were assessed using multidetector computed tomography. The patients represented different ages and were referred to the Diagnostic and Interventional Radiological Department, Faculty of Medicine, Alexandria University. The gathered data were then subjected to statistical analysis, including correlation and regression analysis. The measurements of the sella showed a strong correlation with age. Three selected measurements demonstrated significant sexual dimorphism: sella width and anterior and median height in subjects 20–25 years old. Six regression equations were derived. The accuracy achieved by the combined parameters in the younger group (<25 years old) was higher than that in the older individuals. This study provides useful tools in the determination of age and sex in both forensic and bioarcheological disciplines. However, further studies concerning the shape are strongly suggested.
蝶鞍作为稳定的骨标记在头颅测量研究中具有重要意义。本研究探讨了出生后蝶鞍个体发育直到完全发育的变化,并验证了其在埃及人年龄估计和性别分配中的贡献。使用多探测器计算机断层扫描对215名埃及患者的蝶鞍进行了6个选定的测量。患者代表不同年龄,被转介到亚历山大大学医学院诊断和介入放射科。然后对收集到的数据进行统计分析,包括相关分析和回归分析。鞍的测量结果显示与年龄有很强的相关性。在20-25岁的受试者中,三个选定的测量结果显示了显著的性别二态性:鞍宽、前高度和中高度。导出了6个回归方程。综合参数在年轻组(<25岁)的准确性高于在老年个体。这项研究为法医和生物考古学科确定年龄和性别提供了有用的工具。然而,强烈建议进一步研究其形状。
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引用次数: 1
期刊
Human Biology
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