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灵长类高级认知功能起源的遗传机制初探
其他题名Preliminary study on the genetic mechanism of origin of advanced cognitive skills in primates
杨苏
学位类型硕士
导师宿兵
2004-08
学位授予单位中国科学院研究生院
学位授予地点北京
关键词分子进化 比较基因组学 基因芯片 正选择
摘要大约5一7百万年前,从大猿中分出来的一支,走上了以大脑容量快速扩增为特征的演化道路,并最终进化成具有高级认知能力的物种-人。一直以来古人类学家和生物学家经过不懈努力,向我们揭示了人与灵长类其他物种的亲缘关系,并且让我们知道黑猩猩是同人类亲缘关系最近的现生物种。然而人口的爆炸增长和黑猩猩种群数目的急剧减少形成的鲜明对比,让我们迷惑于为何在进化地位上如此相近的物种,命运却截然不同。通过比较两个物种,科学家们发现问题的关键在于:人具有高度发达的大脑和相伴而生的高级认知能力。高度发达的认知能力使得人类获得了对环境强大的适应力,从而能够从众多生物中脱颖而出成为统治地球的智慧生物。通过比较黑猩猩和人基因组序列,生物学家发现人和黑猩猩DNA序列相似度接近99%。这个结果提示我们:1)只有很少数目的基因在一级结构上的变化和认知差异有关;2)认知差异可能更多是由调控相关元件变化导致的基因表达水平上的差异引起的。基于此,我们试图通过比较两个物种目前所知的在人脑中表达的基因的一级结构差异,找寻那些在人起源过程中受到较强正选择的基因。我们检测了近万个基因,结果显示只有大约1.38%的基因有明显的正选择迹象。接着我们从中选取了一个基因-MrgX2,测了全世界范围内的代表性人群以及非人灵长类中的代表性物种,结果显示MrgX2在人这一支受到了很强的适应选择作用,这一适应又很有可能和人类起源过程中感觉神经系统的适应有关。神经生物学的研究表明,大脑皮层前额叶是行使高级认知功能的主要区域。大脑在发育的过程中有一个神经网络重新搭建的过程,而这一过程和基因表达是密切相关的。基于此我们采用基因芯片的方法,通过比较称猴大脑发育各个关键时期的前额叶基因表达图谱,以期了解与大脑神经网络构建相关基因的活动情况。
其他摘要About 5 to 7 million years ago, human diverged from the common ancestor of human and great apes with a rapid brain enlargement. Brain enlargement with improved cognitive skills is one of the most significant changes during primate evolution, especially during the origin of human. Anthropological and genetic studies have reconstructed the phylogenetic relationships among primates species, and among the living nonhuman primates, chimpanzee is the closest relative of human. However, biologically humans and chimpanzees are fundamentally different. Human conquered the world by acquiring highly developed cognitive skills during evolution while chimapanzees are restricted in several regions in Africa. DNA sequence comparison have confirmed that the two genomes only differ by 1.2% - corresponding to a total of about 40 million single base pair substitutions, together with some insertions, deletions and rearrangements. The observation of sequence similarity between humans and chimps is intriguing and have the following implications: 1) Only a small part of the genes in the genomes are responsible for the biological divergence between humans and chimps, especially the difference in cognition; 2) The difference at gene expression level may play an pivotal role in the functional divergence between humans and chimps. In this study, we aim to identify genes under strong Darwinian positive selection in the human lineage, which potentially contributed to the formation of human cognition. Our result showed that only 1.38% genes show strong positive selection. Further study on a G protein coupled receptor, MrgX2 demonstrated a rapid amino acid substitution in primtes, especially the lineage leading to the origin of humans. We observed four fixed amino acid substitutions in humans that were caused by strong Darwinian positive selection, implying that MrgX2 has undergone adaptive changes during human evolution. These adaptive changes may contribute to the adaptation of human nervous system during human origin. The prefrontal cortex (PFC), is critical for several specific cognitive skills, e. g. the working memory. The central nervous system will experience reconstruction during brain development, and this process is associated with adjustment of gene expression in the brain. Using DNA microarray technology, we tend to dissect the gene expression profiles of PFC at three crucial developmental stages in rhesus monkeys.
语种中文
文献类型学位论文
条目标识符http://ir.kiz.ac.cn/handle/152453/6185
专题科研部门_比较基因组学(宿兵)
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杨苏. 灵长类高级认知功能起源的遗传机制初探[D]. 北京. 中国科学院研究生院,2004.
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