通过选择EDAR变体的表达来模拟小鼠最近的人类进化
Yana G Kamberov1, Sijia Wang, Jingze Tan
1Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Cell
|February 19, 2013
概括
与人类适应相关的EDARV370A变体增加了小鼠和人类的毛发厚度. 这项研究揭示了它对乳腺和腺的影响,为适应性进化提供了洞察力.
科学领域:
- 人类进化遗传学人类进化遗传学
- 哺乳动物发育生物学
- 人口遗传学 人口遗传学
背景情况:
- EDARV370A等位基因是最近人类基因组中积极选择的强有力的候选者.
- 其精确的生物学意义和适应性作用仍然不完全理解.
- 之前的关联包括改变的头发和牙形态.
研究的目的:
- 调查EDARV370A变种的生物学意义和适应性作用.
- 在小鼠模型中描述EDARV370A的表型.
- 探索EDARV370A.的进化起源和人类人口关联.
主要方法:
- 代基因起源和时间的计算分析.
- 为EDARV370A.生成一个敲击鼠标模型.
- 在老鼠中的表型特征和在汉族中国人群中的关联研究.
主要成果:
- EDARV370A等位基因可能起源于中国中部大约3万年前.
- EDARV370A小鼠表现出增加的毛发厚度,反映了人类的表型.
- 突变影响乳腺和状腺,在汉族人群中观察到活跃状腺增加.
结论:
- 在人类中,EDARV370A代表了显著的适应性遗传变异.
- 该变种影响头发,乳腺和腺的发育和功能.
- 这项研究为人类适应性进化提供了跨学科的见解.
相关概念视频
09:10Measuring Single-Cell Aging with an Imaging-based Biomarker of Chromatin and Epigenetic Aging
208
The protocol presents the imaging and computational workflow to extract and validate imaging-based chromatin and epigenetic age...
208
04:40Electrostatic Method to Remove Particulate Organic Matter from Soil
5.2K
Removing recently deposited and incompletely decomposed plant material from soil samples reduces the influence of temporary seasonal inputs on soil organic carbon measurements. Attraction to an electrostatically charged surface can be used to quickly remove a substantial amount of particulate organic...
5.2K
08:57Improving Infrared Spectroscopy Characterization of Soil Organic Matter with Spectral Subtractions
13.2K
SOM underlies many soil functions and processes, but its characterization by FTIR spectroscopy is often challenged by mineral interferences. The described method can increase the utility of SOM analysis by FTIR spectroscopy by subtracting mineral interferences in soil spectra using empirically obtained mineral reference...
13.2K
13:29Production and Measurement of Organic Particulate Matter in a Flow Tube Reactor
8.0K
This paper describes the operation procedure for the flow tube reactor and related data collection. It shows the protocols for setting the experiments, recording data and generating the number-diameter distribution as well as the particle mass information, which gives useful information about chemical and physical properties of the organic...
8.0K
09:46Production and Measurement of Organic Particulate Matter in the Harvard Environmental Chamber
7.7K
This paper describes operation procedures for the Harvard Environmental Chamber (HEC) and related instrumentation for measuring gaseous and particle species. The environmental chamber is used to produce and study secondary organic species produced from the organic precursors, especially related to atmospheric organic particulate matter.
7.7K
09:38Understanding Dissolved Organic Matter Biogeochemistry Through In Situ Nutrient Manipulations in Stream Ecosystems
11.0K
Dissolved organic matter provides an important source of energy and nutrients to stream ecosystems. Here we demonstrate a field-based method to manipulate the ambient pool of dissolved organic matter in situ through easily replicable nutrient...
11.0K