Fondon John W, Hammock Elizabeth A D, Hannan Anthony J, King David G
McDermott Center for Human Growth and Development and Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Trends Neurosci. 2008 Jul;31(7):328-34. doi: 10.1016/j.tins.2008.03.006. Epub 2008 Jun 10.
Simple sequence repeats (SSRs), sometimes described as genetic 'stutters,' are DNA tracts in which a short base-pair motif is repeated several to many times in tandem (e.g. CAGCAGCAG). These sequences experience frequent mutations that alter the number of repeats. Because SSRs are commonly located in promoters, untranslated regions and even coding sequences, such mutations can directly influence almost any aspect of gene function. Mutational expansion of certain triplet repeats is responsible for several hereditary neurodegenerative disorders, but SSR alleles can also contribute to normal variation in brain and behavioral traits. Here we review studies implicating SSRs not just in disease but also in circadian rhythmicity, sociosexual interaction, aggression, cognition and personality. SSRs can affect neuronal differentiation, brain development and even behavioral evolution.
简单序列重复(SSRs),有时也被描述为基因“口吃”,是指DNA片段中一个短碱基对基序串联重复数次至多次(例如CAGCAGCAG)。这些序列经常发生突变,从而改变重复次数。由于简单序列重复通常位于启动子、非翻译区甚至编码序列中,此类突变几乎可直接影响基因功能的各个方面。某些三联体重复序列的突变性扩增是多种遗传性神经退行性疾病的病因,但简单序列重复等位基因也可能导致大脑和行为特征的正常变异。在此,我们综述了一些研究,这些研究表明简单序列重复不仅与疾病有关,还与昼夜节律、社会性行为、攻击行为、认知和个性有关。简单序列重复可影响神经元分化、大脑发育甚至行为进化。