Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.
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DOI：
10.1371/journal.pbio.0020126
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发表时间：
2004-05
期刊：
影响因子：
9.8
通讯作者：
Larionov V
中科院分区：
文献类型：
--
作者：
Kouprina N;Pavlicek A;Mochida GH;Solomon G;Gersch W;Yoon YH;Collura R;Ruvolo M;Barrett JC;Woods CG;Walsh CA;Jurka J;Larionov V
原发性小头畸形（MCPH）是一种神经发育障碍，其特征是大脑皮质体积的全面减少。小头脑的体积与早期原始人类相当，这增加了一些MCPH基因可能是哺乳动物，特别是灵长类动物大脑皮层扩张的进化目标的可能性。ASPM基因突变是MCPH最常见的已知病因，ASPM基因编码人类同源的纺锤体功能所必需的苍蝇蛋白。在这里，我们已经分离出大的基因组克隆包含完整的ASPM基因，包括启动子区和内含子，从黑猩猩，大猩猩，和恒河猴的转化相关的重组克隆在酵母中。我们对这些克隆进行了测序，结果表明，尽管ASPM的大部分序列在灵长类动物中基本上是保守的，但特定片段受到高Ka/Ks比率（非同义/同义DNA变化）的影响，这与进化变化的强阳性选择一致。ASPM基因序列显示了非洲类人猿分支的加速进化，这比类人猿的大脑扩张早了几百万年。大猩猩和人类谱系在ASPM的智商领域表现出特别加速的进化。此外，灵长类动物中正选择下的ASPM区域也是灵长类动物和非灵长类哺乳动物之间最高度分化的区域。我们报告了TAR克隆技术在人类进化研究中的首次直接应用。我们的数据表明，进化选择的特定部分的ASPM序列强烈相关的差异，大脑皮层的大小。ASPM基因的突变与异常小的大脑大小有关。对几种灵长类动物ASPM基因的比较表明，它是进化选择的目标，以增加大脑大小
Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids, raising the possibility that some MCPH genes may have been evolutionary targets in the expansion of the cerebral cortex in mammals and especially primates. Mutations in ASPM, which encodes the human homologue of a fly protein essential for spindle function, are the most common known cause of MCPH. Here we have isolated large genomic clones containing the complete ASPM gene, including promoter regions and introns, from chimpanzee, gorilla, orangutan, and rhesus macaque by transformation-associated recombination cloning in yeast. We have sequenced these clones and show that whereas much of the sequence of ASPM is substantially conserved among primates, specific segments are subject to high Ka/Ks ratios (nonsynonymous/synonymous DNA changes) consistent with strong positive selection for evolutionary change. The ASPM gene sequence shows accelerated evolution in the African hominoid clade, and this precedes hominid brain expansion by several million years. Gorilla and human lineages show particularly accelerated evolution in the IQ domain of ASPM. Moreover, ASPM regions under positive selection in primates are also the most highly diverged regions between primates and nonprimate mammals. We report the first direct application of TAR cloning technology to the study of human evolution. Our data suggest that evolutionary selection of specific segments of the ASPM sequence strongly relates to differences in cerebral cortical size. Mutation of the ASPM gene is associated with abnormally small brain size. Comparison of the ASPM gene from several primate species suggests it as a target of evolutionary selection for increased brain size
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影响因子：
2.7
作者：
GOULD, SJ;VRBA, ES
通讯作者：
VRBA, ES
影响因子：
10.7
作者：
Endo, T;Ikeo, K;Gojobori, T
通讯作者：
Gojobori, T
影响因子：
14.9
作者：
AOTA, S;IKEMURA, T
通讯作者：
IKEMURA, T
DOI：
10.1111/j.1365-2788.1996.tb00604.x
发表时间：
1996-02-01
影响因子：
3.6
作者：
McCreary, BD;Rossiter, JP;Robertson, DM
通讯作者：
Robertson, DM
影响因子：
64.8
作者：
MCDONALD, JH;KREITMAN, M
通讯作者：
KREITMAN, M