Risso Davide, Behrens Maik, Sainz Eduardo, Meyerhof Wolfgang, Drayna Dennis
National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD.
Department of BiGeA, Laboratory of Molecular Anthropology and Centre for Genome Biology, University of Bologna, Bologna, Italy.
Mol Biol Evol. 2017 Jul 1;34(7):1587-1595. doi: 10.1093/molbev/msx097.
Lineage-specific gene losses can be driven by selection or environmental adaptations. However, a lack of studies on the original function of species-specific pseudogenes leaves a gap in our understanding of their role in evolutionary histories. Pseudogenes are of particular relevance for taste perception genes, which encode for receptors that confer the ability to both identify nutritionally valuable substances and avoid potentially harmful substances. To explore the role of bitter taste pseudogenization events in human origins, we restored the open reading frames of the three human-specific pseudogenes and synthesized the reconstructed functional hTAS2R2, hTAS2R62 and hTAS2R64 receptors. We have identified ligands that differentially activate the human and chimpanzee forms of these receptors and several other human functional TAS2Rs. We show that these receptors are narrowly tuned, suggesting that bitter-taste sensitivities evolved independently in different species, and that these pseudogenization events occurred because of functional redundancy. The restoration of function of lineage-specific pseudogenes can aid in the reconstruction of their evolutionary history, and in understanding the forces that led to their pseudogenization.
谱系特异性基因丢失可能由选择或环境适应驱动。然而,对物种特异性假基因原始功能的研究不足,这使我们在理解它们在进化历史中的作用方面存在空白。假基因与味觉感知基因特别相关,味觉感知基因编码的受体既能识别有营养的物质,又能避免潜在有害物质。为了探究苦味假基因化事件在人类起源中的作用,我们恢复了三个人类特异性假基因的开放阅读框,并合成了重构的功能性hTAS2R2、hTAS2R62和hTAS2R64受体。我们已经鉴定出能差异激活这些受体的人类和黑猩猩形式以及其他几种人类功能性TAS2R的配体。我们表明这些受体具有狭窄的调谐范围,这表明苦味敏感性在不同物种中独立进化,并且这些假基因化事件是由于功能冗余而发生的。谱系特异性假基因功能的恢复有助于重建其进化历史,并有助于理解导致其假基因化的力量。