Developmental Biology, Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
Science. 2012 Mar 16;335(6074):1373-6. doi: 10.1126/science.1214314. Epub 2012 Feb 16.
The sense of touch relies on detection of mechanical stimuli by specialized mechanosensory neurons. The scarcity of molecular data has made it difficult to analyze development of mechanoreceptors and to define the basis of their diversity and function. We show that the transcription factor c-Maf/c-MAF is crucial for mechanosensory function in mice and humans. The development and function of several rapidly adapting mechanoreceptor types are disrupted in c-Maf mutant mice. In particular, Pacinian corpuscles, a type of mechanoreceptor specialized to detect high-frequency vibrations, are severely atrophied. In line with this, sensitivity to high-frequency vibration is reduced in humans carrying a dominant mutation in the c-MAF gene. Thus, our work identifies a key transcription factor specifying development and function of mechanoreceptors and their end organs.
触觉依赖于专门的机械感觉神经元对机械刺激的检测。由于分子数据的缺乏,分析机械感受器的发育以及确定其多样性和功能的基础变得非常困难。我们表明,转录因子 c-Maf/c-MAF 对于小鼠和人类的机械感觉功能至关重要。几种快速适应机械感受器类型的发育和功能在 c-Maf 突变小鼠中受到破坏。特别是,专门检测高频振动的机械感受器类型——Pacinian 小体严重萎缩。与此一致的是,携带 c-MAF 基因显性突变的人类对高频振动的敏感性降低。因此,我们的工作确定了一个关键的转录因子,该转录因子指定了机械感受器及其终末器官的发育和功能。