Department of Developmental Biology, University of Göttingen, Göttingen, Germany.
CABD (CSIC/UPO/JA), DMC2 Unit, Pablo de Olavide University Campus, Seville, Spain.
Mol Biol Evol. 2021 May 4;38(5):1924-1942. doi: 10.1093/molbev/msaa335.
Revealing the mechanisms underlying the breathtaking morphological diversity observed in nature is a major challenge in Biology. It has been established that recurrent mutations in hotspot genes cause the repeated evolution of morphological traits, such as body pigmentation or the gain and loss of structures. To date, however, it remains elusive whether hotspot genes contribute to natural variation in the size and shape of organs. As natural variation in head morphology is pervasive in Drosophila, we studied the molecular and developmental basis of differences in compound eye size and head shape in two closely related Drosophila species. We show differences in the progression of retinal differentiation between species and we applied comparative transcriptomics and chromatin accessibility data to identify the GATA transcription factor Pannier (Pnr) as central factor associated with these differences. Although the genetic manipulation of Pnr affected multiple aspects of dorsal head development, the effect of natural variation is restricted to a subset of the phenotypic space. We present data suggesting that this developmental constraint is caused by the coevolution of expression of pnr and its cofactor u-shaped (ush). We propose that natural variation in expression or function of highly connected developmental regulators with pleiotropic functions is a major driver for morphological evolution and we discuss implications on gene regulatory network evolution. In comparison to previous findings, our data strongly suggest that evolutionary hotspots are not the only contributors to the repeated evolution of eye size and head shape in Drosophila.
揭示自然界中令人惊叹的形态多样性背后的机制是生物学的一个主要挑战。已经证实,热点基因的反复突变导致形态特征的重复进化,如身体色素沉着或结构的获得和丧失。然而,到目前为止,热点基因是否有助于器官大小和形状的自然变异仍然难以捉摸。由于果蝇的头部形态存在普遍的自然变异,我们研究了两个密切相关的果蝇物种中复眼大小和头部形状差异的分子和发育基础。我们显示了物种之间视网膜分化进展的差异,并且我们应用比较转录组学和染色质可及性数据来鉴定 GATA 转录因子 Pannier(Pnr)作为与这些差异相关的核心因子。尽管 Pnr 的遗传操作影响了头部背面发育的多个方面,但自然变异的影响仅限于表型空间的子集。我们提出的数据表明,这种发育限制是由 pnr 及其共因子 U 形(ush)的表达共同进化引起的。我们提出,具有多效功能的高度连接的发育调节剂的表达或功能的自然变异是形态进化的主要驱动力,并讨论了对基因调控网络进化的影响。与之前的发现相比,我们的数据强烈表明,进化热点并不是果蝇复眼大小和头部形状重复进化的唯一贡献者。