Winkelmann Aline, You Xiantian, Grünewald Nora, Häussler Ute, Krestel Heinz, Haas Carola A, Schwarz Günter, Chen Wei, Meier Jochen C
RNA editing and Hyperexcitability Disorders Group, Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Laboratory of Functional and Medical Genomics, Max Delbrück Center for Molecular Medicine, Berlin, Germany.
PLoS One. 2015 May 8;10(5):e0125413. doi: 10.1371/journal.pone.0125413. eCollection 2015.
Establishment of phylogenetic relationships remains a challenging task because it is based on computational analysis of genomic hot spots that display species-specific sequence variations. Here, we identify a species-specific thymine-to-guanine sequence variation in the Glrb gene which gives rise to species-specific splice donor sites in the Glrb genes of mouse and bushbaby. The resulting splice insert in the receptor for the inhibitory neurotransmitter glycine (GlyR) conveys synaptic receptor clustering and specific association with a particular synaptic plasticity-related splice variant of the postsynaptic scaffold protein gephyrin. This study identifies a new genomic hot spot which contributes to phylogenetic diversification of protein function and advances our understanding of phylogenetic relationships.
建立系统发育关系仍然是一项具有挑战性的任务，因为它基于对显示物种特异性序列变异的基因组热点的计算分析。在这里，我们在Glrb基因中鉴定出一种物种特异性的胸腺嘧啶到鸟嘌呤的序列变异，该变异在小鼠和丛猴的Glrb基因中产生物种特异性的剪接供体位点。在抑制性神经递质甘氨酸（GlyR）受体中产生的剪接插入物传递突触受体聚集，并与突触后支架蛋白桥联蛋白的特定突触可塑性相关剪接变体特异性结合。这项研究确定了一个新的基因组热点，它有助于蛋白质功能的系统发育多样化，并增进了我们对系统发育关系的理解。
