The structure of innate vocalizations in Foxp2-deficient mouse pups.
The structure of innate vocalizations in Foxp2-deficient mouse pups.
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DOI：
10.1111/j.1601-183x.2010.00570.x
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发表时间：
2010-06-01
期刊：
影响因子：
--
通讯作者：
Ehret G
中科院分区：
文献类型：
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作者：
Gaub S;Groszer M;Fisher SE;Ehret G
人类FOXP2基因的杂合突变与严重的言语和语言障碍有关。小鼠Foxp2基因的病因突变导致突变小鼠突触可塑性异常，运动技能学习受损，而鸟类同源物基因的敲低会干扰听觉引导的声乐学习。在这里，我们研究了两种不同的Foxp2点突变对4日龄小鼠幼鼠（小家鼠）发声的影响。R552H错义突变与在一个广泛研究的人类家族中导致言语和语言缺陷的基因相同，而S321X无义突变代表一个不产生Foxp2蛋白的空等位基因。我们想知道仅仅基于先天生产机制的发声是否会受到这些Foxp2突变的影响。录音是在两种不同的情况下进行的：隔离和痛苦，引发一系列的呼叫类型，包括不同噪音内容的宽带发声，超声波哨声和咔哒声。声音产生率和几个声学参数表明，尽管缺乏功能性Foxp2，纯合突变体可以在正常时间模式下发出所有类型的声音，但只能在相对较低的强度下发出。我们认为这些纯合子声音输出的改变可能继发于发育迟缓和躯体无力。杂合突变体与野生型在我们所研究的任何指标（R552H）或仅在少数指标（S321X）上没有差异，这些指标在不同小鼠品系常规观察到的差异范围内。因此，Foxp2对于小鼠幼崽天生产生具有正常声学特性的情绪性发声并不是必不可少的。
Heterozygous mutations of the human FOXP2 gene are implicated in a severe speech and language disorder. Aetiological mutations of murine Foxp2 yield abnormal synaptic plasticity and impaired motor-skill learning in mutant mice, while knockdown of the avian orthologue in songbirds interferes with auditory-guided vocal learning. Here, we investigate influences of two distinct Foxp2 point mutations on vocalizations of 4-day-old mouse pups (Mus musculus). The R552H missense mutation is identical to that causing speech and language deficits in a large well-studied human family, while the S321X nonsense mutation represents a null allele that does not produce Foxp2 protein. We ask whether vocalizations, based solely on innate mechanisms of production, are affected by these alternative Foxp2 mutations. Sound recordings were taken in two different situations: isolation and distress, eliciting a range of call types, including broadband vocalizations of varying noise content, ultrasonic whistles and clicks. Sound production rates and several acoustic parameters showed that, despite absence of functional Foxp2, homozygous mutants could vocalize all types of sounds in a normal temporal pattern, but only at comparably low intensities. We suggest that altered vocal output of these homozygotes may be secondary to developmental delays and somatic weakness. Heterozygous mutants did not differ from wild-types in any of the measures that we studied (R552H) or in only a few (S321X), which were in the range of differences routinely observed for different mouse strains. Thus, Foxp2 is not essential for the innate production of emotional vocalizations with largely normal acoustic properties by mouse pups.