Bio-X-Renji Hospital Research Center, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 200240 Shanghai, China.
Guangdong Key Laboratory of Animal Conservation and Resource Utilization, Guangdong Public Laboratory of Wild Animal Conservation and Utilization, Guangdong Institute of Applied Biological Resources, 510260 Guangzhou, China.
Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):8799-8804. doi: 10.1073/pnas.1721820115. Epub 2018 Aug 13.
Fundamental human traits, such as language and bipedalism, are associated with a range of anatomical adaptations in craniofacial shaping and skeletal remodeling. However, it is unclear how such morphological features arose during hominin evolution. FOXP2 is a brain-expressed transcription factor implicated in a rare disorder involving speech apraxia and language impairments. Analysis of its evolutionary history suggests that this gene may have contributed to the emergence of proficient spoken language. In the present study, through analyses of skeleton-specific knockout mice, we identified roles of in skull shaping and bone remodeling. Selective ablation of in cartilage disrupted pup vocalizations in a similar way to that of global mutants, which may be due to pleiotropic effects on craniofacial morphogenesis. Our findings also indicate that Foxp2 helps to regulate strength and length of hind limbs and maintenance of joint cartilage and intervertebral discs, which are all anatomical features that are susceptible to adaptations for bipedal locomotion. In light of the known roles of Foxp2 in brain circuits that are important for motor skills and spoken language, we suggest that this gene may have been well placed to contribute to coevolution of neural and anatomical adaptations related to speech and bipedal locomotion.
基本的人类特征,如语言和两足行走,与颅面塑造和骨骼重塑的一系列解剖适应有关。然而,目前尚不清楚这些形态特征是如何在人类进化过程中产生的。FOXP2 是一种在涉及言语运动障碍和语言障碍的罕见疾病中起作用的脑表达转录因子。对其进化历史的分析表明,该基因可能有助于产生熟练的口语。在本研究中,通过对骨骼特异性敲除小鼠的分析,我们确定了 在颅骨塑造和骨骼重塑中的作用。在软骨中选择性敲除 以类似于全局 突变体的方式破坏幼仔发声,这可能是由于对颅面形态发生的多效性影响。我们的研究结果还表明,Foxp2 有助于调节后肢的强度和长度以及关节软骨和椎间盘的维持,所有这些解剖特征都容易适应两足运动。鉴于 Foxp2 在对运动技能和口语很重要的大脑回路中的已知作用,我们认为该基因可能有助于与言语和两足运动相关的神经和解剖适应的共同进化。