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ASPM 与新世界猴大脑皮层大小的进化。

ASPM and the evolution of cerebral cortical size in a community of New World monkeys.

机构信息

School of Biological Sciences, Washington State University, Pullman, Washington, United States of America.

出版信息

PLoS One. 2012;7(9):e44928. doi: 10.1371/journal.pone.0044928. Epub 2012 Sep 27.

DOI:10.1371/journal.pone.0044928
PMID:23028686
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3459963/
Abstract

The ASPM (abnormal spindle-like microcephaly associated) gene has been proposed as a major determinant of cerebral cortical size among primates, including humans. Yet the specific functions of ASPM and its connection to human intelligence remain controversial. This debate is limited in part by a taxonomic focus on Old World monkeys and apes. Here we expand the comparative context of ASPM sequence analyses with a study of New World monkeys, a radiation of primates in which enlarged brain size has evolved in parallel in spider monkeys (genus Ateles) and capuchins (genus Cebus). The primate community of Costa Rica is perhaps a model system because it allows for independent pairwise comparisons of smaller- and larger-brained species within two taxonomic families. Accordingly, we analyzed the complete sequence of exon 18 of ASPM in Ateles geoffroyi, Alouatta palliata, Cebus capucinus, and Saimiri oerstedii. As the analysis of multiple species in a genus improves phylogenetic reconstruction, we also analyzed eleven published sequences from other New World monkeys. Our exon-wide, lineage-specific analysis of eleven genera and the ratio of rates of nonsynonymous to synonymous substitutions (d(N)/d(S)) on ASPM revealed no detectable evidence for positive selection in the lineages leading to Ateles or Cebus, as indicated by d(N)/d(S) ratios of <1.0 (0.6502 and 0.4268, respectively). Our results suggest that a multitude of interacting genes have driven the evolution of larger brains among primates, with different genes involved in this process in different encephalized lineages, or at least with evidence for positive selection not readily apparent for the same genes in all lineages. The primate community of Costa Rica may serve as a model system for future studies that aim to elucidate the molecular mechanisms underlying cognitive capacity and cortical size.

摘要

ASPM(异常纺锤体微小头相关)基因被认为是灵长类动物,包括人类大脑皮层大小的主要决定因素。然而,ASPM 的具体功能及其与人类智力的联系仍然存在争议。这种争论部分受到旧世界猴子和猿类分类学焦点的限制。在这里,我们通过对新世界猴子的研究扩展了 ASPM 序列分析的比较背景,新世界猴子是灵长类动物的一个辐射分支,在蜘蛛猴(属 Ateles)和卷尾猴(属 Cebus)中,大脑大小的扩大是平行进化的。哥斯达黎加的灵长类动物群体可能是一个模型系统,因为它允许在两个分类家族中对较小和较大脑型的物种进行独立的成对比较。因此,我们分析了阿特拉斯 Geoffroyi、白脸卷尾猴、白脸卷尾猴和 Saimiri oerstedii 中 ASPM 外显子 18 的完整序列。由于在一个属中分析多个物种可以提高系统发育重建的准确性,我们还分析了来自其他新世界猴子的 11 个已发表的序列。我们对 11 个属的外显子广泛的谱系特异性分析以及 ASPM 上非同义替换与同义替换的比率(d(N)/d(S))表明,在导致阿特拉斯或卷尾猴的谱系中没有检测到正选择的证据,d(N)/d(S)比率<1.0(分别为 0.6502 和 0.4268)。我们的结果表明,许多相互作用的基因驱动了灵长类动物大脑的进化,不同的基因在不同的脑化谱系中参与了这个过程,或者至少在所有谱系中,相同基因的正选择证据并不明显。哥斯达黎加的灵长类动物群体可能成为未来研究的模型系统,旨在阐明认知能力和皮层大小的分子机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc57/3459963/144fdb6a6452/pone.0044928.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc57/3459963/30d724ac76b3/pone.0044928.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc57/3459963/144fdb6a6452/pone.0044928.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc57/3459963/30d724ac76b3/pone.0044928.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc57/3459963/144fdb6a6452/pone.0044928.g002.jpg

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本文引用的文献

1
A molecular phylogeny of living primates.现生灵长类的分子系统发生
PLoS Genet. 2011 Mar;7(3):e1001342. doi: 10.1371/journal.pgen.1001342. Epub 2011 Mar 17.
2
Adaptive evolution of four microcephaly genes and the evolution of brain size in anthropoid primates.四种小头畸形基因的适应性进化及人科灵长类动物大脑大小的进化。
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Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.
在小鼠中,Aspm(与异常纺锤体相关的小头畸形)基因突变不仅导致小头畸形,还导致生殖细胞的主要缺陷。
Proc Natl Acad Sci U S A. 2010 Sep 21;107(38):16595-600. doi: 10.1073/pnas.1010494107. Epub 2010 Sep 7.
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NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha.与核有丝分裂器蛋白相关的LIN-5、ASPM-1、钙调蛋白和动力蛋白可独立于皮层LIN-5/GPR/Gα促进减数分裂纺锤体旋转。
Nat Cell Biol. 2009 Mar;11(3):269-77. doi: 10.1038/ncb1834. Epub 2009 Feb 15.
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Positive selection in ASPM is correlated with cerebral cortex evolution across primates but not with whole-brain size.在人类加速进化基因(ASPM)中的正向选择与灵长类动物大脑皮层的进化相关,但与全脑大小无关。
Mol Biol Evol. 2008 Nov;25(11):2247-50. doi: 10.1093/molbev/msn184. Epub 2008 Aug 21.
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MEGA: a biologist-centric software for evolutionary analysis of DNA and protein sequences.MEGA:一款以生物学家为中心的用于DNA和蛋白质序列进化分析的软件。
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7
Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM.对埃文斯等人以及梅克尔 - 博布罗夫等人关于MCPH1和ASPM正选择证据的论文的评论
Science. 2007 Aug 24;317(5841):1036; author reply 1036. doi: 10.1126/science.1141705.
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PAML 4: phylogenetic analysis by maximum likelihood.PAML 4:基于最大似然法的系统发育分析。
Mol Biol Evol. 2007 Aug;24(8):1586-91. doi: 10.1093/molbev/msm088. Epub 2007 May 4.
9
Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens".对《人类脑容量决定因素ASPM的持续适应性进化》的评论
Science. 2007 Apr 20;316(5823):370. doi: 10.1126/science.316.5823.370a.
10
Multiple hypothesis testing to detect lineages under positive selection that affects only a few sites.多重假设检验以检测仅影响少数位点的正选择谱系。
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