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Molecular genetic determinants of human brain size

机译：人类大脑大小的分子遗传决定因素

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Cognitive skills such as tool use, syntactical languages, and self-awareness differentiate humans from other primates. The underlying basis for this cognitive difference has been widely associated with a high enceplialization quotient and an anatomically distinct, exceptionally large cerebral cortex. Investigations on congenital microcephaly had revealed several genes that affect mammalian brain size when mutated. At least four of these, microcephalin (MCPHI), abnormal spindle-like microcephaly-associated (ASPAI), cyclin-dependent kinase 5 regulatory associated protein 2 (CDK5RAP2), and centromere-associated protein J (CENPJ) are known to have undergone significant positive selection in the great apes and human lineages during primate evolution. MCPHI and ASPM both have very young single nucleotide polymorphism haplotypes associated with modern humans, and these genes are presumably still evolving in Homo sapiens. Microcephalin has a role in DNA damage response and regulation of cell cycle checkpoints. The other known microcephaly-associated genes encode microtubule-associated centrosomal proteins that might regulate neural progenitor cell division and cell number. Recent reports have also unveiled a previously unknown function of ephrins and Eph in the regulation of neural progenitor cell death with a consequential effect on brain size. Understanding the mechanism for developmental control of brain organogenesis by these genes, and others such as FOXP2, shall provide fresh perspectives on the evolution of human intelligence. (c) 2006 Elsevier Inc. All rights reserved.
机译：诸如工具使用，句法语言和自我意识之类的认知技能使人类与其他灵长类动物区分开。这种认知差异的基础已经与高能化商和解剖学上不同的，异常大的大脑皮层广泛相关。对先天性小头畸形的研究表明，有几种基因在突变后会影响哺乳动物的大脑大小。其中至少有四个已知，小头蛋白（MCPHI），异常纺锤样小头相关（ASPAI），细胞周期蛋白依赖性激酶5调节相关蛋白2（CDK5RAP2）和着丝粒相关蛋白J（CENPJ）经历了重大在灵长类动物进化过程中对大猿类和人类谱系的积极选择。 MCPHI和ASPM都具有与现代人类相关的非常年轻的单核苷酸多态性单倍型，并且这些基因可能仍在智人中进化。微头蛋白在DNA损伤反应和细胞周期检查点的调节中起作用。其他已知的与小头畸形相关的基因编码可能与神经祖细胞分裂和细胞数量有关的微管相关的中心体蛋白。最近的报道还揭示了ephrins和Eph在调节神经祖细胞死亡中的作用，这对大脑的大小有影响，这在以前是未知的。了解这些基因以及诸如FOXP2之类的基因对大脑器官发生的发育控制机制，将为人类智能的发展提供新的视角。 （c）2006 Elsevier Inc.保留所有权利。

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