Department of Biology II, Ludwig Maximilian University Munich Munich, Germany.
Front Hum Neurosci. 2014 May 21;8:345. doi: 10.3389/fnhum.2014.00345. eCollection 2014.
Which genetic changes took place during mammalian, primate and human evolution to build a larger brain? To answer this question, one has to correlate genetic changes with brain size changes across a phylogeny. Such a comparative genomics approach provides unique information to better understand brain evolution and brain development. However, its statistical power is limited for example due to the limited number of species, the presumably complex genetics of brain size evolution and the large search space of mammalian genomes. Hence, it is crucial to add functional information, for example by limiting the search space to genes and regulatory elements known to play a role in the relevant cell types during brain development. Similarly, it is crucial to experimentally follow up on hypotheses generated by such a comparative approach. Recent progress in understanding the molecular and cellular mechanisms of mammalian brain development, in genome sequencing and in genome editing, promises to make a close integration of evolutionary and experimental methods a fruitful approach to better understand the genetics of mammalian brain size evolution.
在哺乳动物、灵长类动物和人类进化过程中，发生了哪些基因变化来构建更大的大脑？为了回答这个问题，人们必须将基因变化与整个系统发生树上的大脑大小变化相关联。这种比较基因组学方法提供了独特的信息，有助于更好地理解大脑进化和大脑发育。然而，由于物种数量有限、大脑大小进化的遗传复杂性以及哺乳动物基因组的巨大搜索空间，其统计能力受到限制。因此，添加功能信息至关重要，例如，将搜索空间限制在已知在大脑发育过程中相关细胞类型中发挥作用的基因和调控元件。同样，通过这种比较方法生成的假设进行实验验证也至关重要。目前，在理解哺乳动物大脑发育的分子和细胞机制、基因组测序和基因组编辑方面取得了进展，有望实现进化和实验方法的紧密结合，从而更好地理解哺乳动物大脑大小进化的遗传学。
