比较生理人类遗传学:探索不同人类表型的分子基础。

IF 29.9 1区 医学 Q1 PHYSIOLOGY Physiological reviews Pub Date : 2023-07-01 Epub Date: 2023-01-05 DOI:10.1152/physrev.00040.2021
Michael Vaill, Kunio Kawanishi, Nissi Varki, Pascal Gagneux, Ajit Varki
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引用次数: 0

摘要

人类遗传学是一个经典的术语,包括对人类起源的跨学科研究。比较人类遗传学是对人类和其他现存的非人类原始人(即所谓的“类人猿”)的系统比较,旨在明确人类在健康和疾病方面的特征,总体目标是解释人类起源。我们从历史的角度开始,简要描述了该领域如何从最早的进化见解发展到目前对“人类特异性”生物学的深入分子和基因组研究,以及对文化对人类生物学影响的日益重视。尽管在过去的二十年里,人类和其他原始人之间的许多基因差异已经被揭示,但这些信息仍然不足以解释人类与其他现存原始人之间最独特的表型特征。在这里,我们按照临床前医学课程的思路,采取了一种“比较生理人类遗传学”的补充方法,即从解剖学开始,考虑每个生理系统,并在每种情况下考虑相关的遗传和分子成分。最终需要的是从分子到生理再到社会文化的各个层面的系统比较方法,建立相关信息网络,进行推断,并产生可检验的假设。最后一节将涉及人类进化研究中的独特考虑,包括基因与文化相互作用的重要性。
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Comparative physiological anthropogeny: exploring molecular underpinnings of distinctly human phenotypes.

Anthropogeny is a classic term encompassing transdisciplinary investigations of the origins of the human species. Comparative anthropogeny is a systematic comparison of humans and other living nonhuman hominids (so-called "great apes"), aiming to identify distinctly human features in health and disease, with the overall goal of explaining human origins. We begin with a historical perspective, briefly describing how the field progressed from the earliest evolutionary insights to the current emphasis on in-depth molecular and genomic investigations of "human-specific" biology and an increased appreciation for cultural impacts on human biology. While many such genetic differences between humans and other hominids have been revealed over the last two decades, this information remains insufficient to explain the most distinctive phenotypic traits distinguishing humans from other living hominids. Here we undertake a complementary approach of "comparative physiological anthropogeny," along the lines of the preclinical medical curriculum, i.e., beginning with anatomy and considering each physiological system and in each case considering genetic and molecular components that are relevant. What is ultimately needed is a systematic comparative approach at all levels from molecular to physiological to sociocultural, building networks of related information, drawing inferences, and generating testable hypotheses. The concluding section will touch on distinctive considerations in the study of human evolution, including the importance of gene-culture interactions.

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来源期刊
Physiological reviews
Physiological reviews 医学-生理学
CiteScore
56.50
自引率
0.90%
发文量
53
期刊介绍: Physiological Reviews is a highly regarded journal that covers timely issues in physiological and biomedical sciences. It is targeted towards physiologists, neuroscientists, cell biologists, biophysicists, and clinicians with a special interest in pathophysiology. The journal has an ISSN of 0031-9333 for print and 1522-1210 for online versions. It has a unique publishing frequency where articles are published individually, but regular quarterly issues are also released in January, April, July, and October. The articles in this journal provide state-of-the-art and comprehensive coverage of various topics. They are valuable for teaching and research purposes as they offer interesting and clearly written updates on important new developments. Physiological Reviews holds a prominent position in the scientific community and consistently ranks as the most impactful journal in the field of physiology.
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