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人类大脑中表达的新基因:对注释进化基因组的意义。

New genes expressed in human brains: implications for annotating evolving genomes.

机构信息

Key Laboratory of the Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, P.R. China.

出版信息

Bioessays. 2012 Nov;34(11):982-91. doi: 10.1002/bies.201200008. Epub 2012 Sep 24.

Abstract

New genes have frequently formed and spread to fixation in a wide variety of organisms, constituting abundant sets of lineage-specific genes. It was recently reported that an excess of primate-specific and human-specific genes were upregulated in the brains of fetuses and infants, and especially in the prefrontal cortex, which is involved in cognition. These findings reveal the prevalent addition of new genetic components to the transcriptome of the human brain. More generally, these findings suggest that genomes are continually evolving in both sequence and content, eroding the conservation endowed by common ancestry. Despite increasing recognition of the importance of new genes, we highlight here that these genes are still seriously under-characterized in functional studies and that new gene annotation is inconsistent in current practice. We propose an integrative approach to annotate new genes, taking advantage of functional and evolutionary genomic methods. We finally discuss how the refinement of new gene annotation will be important for the detection of evolutionary forces governing new gene origination.

摘要

新基因经常在各种生物体中形成并固定下来,形成了大量的谱系特异性基因。最近有报道称,在胎儿和婴儿的大脑中,尤其是在参与认知的前额叶皮层中,过度表达了灵长类动物特异性和人类特异性基因。这些发现揭示了新的遗传成分在人类大脑转录组中普遍增加。更普遍地说,这些发现表明基因组在序列和内容上都在不断进化,侵蚀了共同祖先赋予的保守性。尽管人们越来越认识到新基因的重要性,但我们在这里强调,这些基因在功能研究中仍然严重缺乏特征,并且当前实践中的新基因注释不一致。我们提出了一种综合的方法来注释新基因,利用功能和进化基因组学方法。我们最后讨论了如何改进新基因注释对于检测控制新基因起源的进化力量将是重要的。

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