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Genome-enabled inference of functional genetic variants in the face, brain and behavior
bioRxiv - Evolutionary Biology Pub Date : 2020-10-12 , DOI: 10.1101/2020.10.12.336453
Chinar Patil , Jonathan B. Sylvester , Kawther Abdilleh , Michael W. Norsworthy , Karen Pottin , Milan Malinsky , Ryan F. Bloomquist , Zachary V. Johnson , Patrick T. McGrath , Jeffrey T. Streelman

Lake Malawi cichlid fishes exhibit extensive divergence in form and function among closely related species separated by a relatively small number of genetic changes. During the past million years, hundreds of species have diversified along an ecological axis in rock vs. sand habitats. We compared the genomes of rock- and sand-dwelling species and asked which genetic variants in which genes differed among the groups. We found that 96% of differentiated variants reside in non-coding sequence but these non-coding diverged variants are evolutionarily conserved. The majority of divergent coding variants are missense and/or loss of function. Regions near differentiated variants are enriched for craniofacial, neural and behavioral functional categories. To follow up experimentally, we used rock- vs. sand- species and their hybrids to (i) clarify the push-pull roles of BMP signaling and irx1b in the specification of forebrain territories during gastrulation and (ii) reveal striking context-dependent brain gene expression during adult social behavior. Our results suggest compelling ties between early brain development and adult behavior and highlight the promise of evolutionary reverse genetics : the identification of functional variants from genome sequencing in natural populations.

中文翻译:

通过基因组推断面部,大脑和行为的功能遗传变异

马拉维湖丽鱼科鱼类在形式和功能上表现出广泛的差异,这些物种之间的亲缘关系由相对较少的遗传变化所分隔。在过去的一百万年中,在岩石和沙子栖息地中,有数百种物种沿着生态轴多样化。我们比较了居住在岩石和沙子上的物种的基因组,并询问各组中哪些基因的基因变异。我们发现96%的分化变异体位于非编码序列中,但这些非编码变异体在进化上是保守的。大多数不同的编码变体是错义和/或功能丧失。在颅面,神经和行为功能类别中,分化变体附近的区域丰富了。为了进行实验跟踪,我们使用了Rock-vs。沙物种及其杂种,以(i)阐明BMP信号传导和irx1b在促胃形成过程中在前脑区域的规范中的推挽作用,以及(ii)在成人社交行为中揭示引人注目的上下文相关脑基因表达。我们的结果表明,早期大脑发育与成人行为之间存在令人信服的联系,并强调了进化逆向遗传学的前景:从自然种群中的基因组测序中鉴定功能性变体。
更新日期:2020-10-13
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