State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing 100875, China.
State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing 100875, China; Beijing Key Laboratory of Brain Imaging and Connectomics, Beijing Normal University, Beijing 100875, China.
Neurosci Biobehav Rev. 2017 Sep;80:263-275. doi: 10.1016/j.neubiorev.2017.05.023. Epub 2017 Jun 4.
In addition to determining sex, the X chromosome has long been considered to play a crucial role in brain development and intelligence. Turner syndrome (TS) is caused by the congenital absence of all or part of one of the X chromosomes in females. Thus, Turner syndrome provides a unique "knock-out model" for investigating how the X chromosome influences the human brain in vivo. Numerous cutting-edge neuroimaging techniques and analyses have been applied to investigate various brain phenotypes in women with TS, which have yielded valuable evidence toward elucidating the causal relationship between the X chromosome and human brain structure and function. In this review, we comprehensively summarize the recent progress made in TS-related neuroimaging studies and emphasize how these findings have enhanced our understanding of X chromosome function with respect to the human brain. Future investigations are encouraged to address the issues of previous TS neuroimaging studies and to further identify the biological mechanisms that underlie the function of specific X-linked genes in the human brain.
除了决定性别外，X 染色体长期以来一直被认为在大脑发育和智力方面起着关键作用。特纳综合征（TS）是由女性体内一条或部分 X 染色体先天缺失引起的。因此，特纳综合征为研究 X 染色体如何在体内影响人类大脑提供了一个独特的“敲除模型”。大量的前沿神经影像学技术和分析方法已被应用于研究特纳综合征女性的各种大脑表型，这些研究为阐明 X 染色体与人类大脑结构和功能之间的因果关系提供了有价值的证据。在这篇综述中，我们全面总结了与 TS 相关的神经影像学研究的最新进展，并强调了这些发现如何增强我们对 X 染色体在人类大脑中的功能的理解。鼓励未来的研究解决以前的 TS 神经影像学研究中的问题，并进一步确定特定 X 连锁基因在人类大脑中功能的生物学机制。
