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开发一个用于确定与现代人类遗传疾病相关的古DNA基因组特征的在线门户:一项荟萃分析研究。

Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study.

作者信息

Senturk Niyazi, Ergoren Mahmut Cerkez

机构信息

Department of Biomedical Engineering, Near East University Faculty of Engineering, Nicosia, Cyprus.

Department of Medical Biology, Near East University School of Medicine, Nicosia, Cyprus.

出版信息

Eurasian J Med. 2020 Jun;52(2):153-160. doi: 10.5152/eurasianjmed.2019.18424. Epub 2020 Jun 2.

Abstract

OBJECTIVE

Mutations or introgression can cause and rise adaptive alleles of which some can be beneficial. Archaic humans lived more than 200,000 years ago in Europe and Western Asia. They were adapted to the environment and pathogens that prevailed in these locations. It can therefore be thought that modern humans obtained significant immune advantage from the archaic alleles.

MATERIALS AND METHODS

First, data were collected by meta-analysis from previously identified genetic diseases caused by alleles that were introgressed from archaics. Second, the in silico model portal (http://www.archaics2phenotype.xxx.edu.tr) was designed to trace the history of the Neanderthal allele. The portal also shows the current distribution of the genotypes of the selected alleles within different populations and correlates with the individuals phenotype.

RESULTS

Our developed model provides a better understanding for the origin of genetic diseases or traits that are associated with the Neanderthal genome.

CONCLUSION

The developed medicine model will help individuals and their populations to receive the best treatment. It also clarifies why there are differences in disease phenotypes in modern humans.

摘要

目的

突变或基因渗入可导致并增加适应性等位基因,其中一些可能是有益的。古代人类在20多万年前生活在欧洲和西亚。他们适应了这些地区普遍存在的环境和病原体。因此可以认为,现代人类从古代等位基因中获得了显著的免疫优势。

材料和方法

首先,通过荟萃分析收集先前确定的由古代基因渗入的等位基因引起的遗传疾病的数据。其次,设计了计算机模拟模型门户(http://www.archaics2phenotype.xxx.edu.tr)来追踪尼安德特人等位基因的历史。该门户还显示了所选等位基因的基因型在不同人群中的当前分布,并与个体表型相关。

结果

我们开发的模型为与尼安德特人基因组相关的遗传疾病或性状的起源提供了更好的理解。

结论

所开发的医学模型将帮助个体及其群体获得最佳治疗。它还阐明了现代人类疾病表型存在差异的原因。

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本文引用的文献

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The Divergence of Neandertal and Modern Human Y Chromosomes.尼安德特人与现代人类Y染色体的差异
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A draft sequence of the Neandertal genome.尼安德特人基因组草图。
Science. 2010 May 7;328(5979):710-722. doi: 10.1126/science.1188021.
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Pathogen recognition and innate immunity.病原体识别与固有免疫
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