Fink Sabine, Excoffier Laurent, Heckel Gerald
Computational and Molecular Population Genetics (CMPG), Zoological Institute, University of Bern, Baltzerstrasse 6, CH-3012 Bern, Switzerland.
BMC Evol Biol. 2007 Sep 27;7:176. doi: 10.1186/1471-2148-7-176.
The arginine-vasopressin 1a receptor has been identified as a key determinant for social behaviour in Microtus voles, humans and other mammals. Nevertheless, the genetic bases of complex phenotypic traits like differences in social and mating behaviour among species and individuals remain largely unknown. Contrary to previous studies focusing on differences in the promotor region of the gene, we investigate here the level of functional variation in the coding region (exon 1) of this locus.
We detected high sequence diversity between higher mammalian taxa as well as between species of the genus Microtus. This includes length variation and radical amino acid changes, as well as the presence of distinct protein variants within individuals. Additionally, negative selection prevails on most parts of the first exon of the arginine-vasopressin receptor 1a (avpr1a) gene but it contains regions with higher rates of change that harbour positively selected sites. Synonymous and non-synonymous substitution rates in the avpr1a gene are not exceptional compared to other genes, but they exceed those found in related hormone receptors with similar functions.
These results stress the importance of considering variation in the coding sequence of avpr1a in regards to associations with life history traits (e.g. social behaviour, mating system, habitat requirements) of voles, other mammals and humans in particular.
精氨酸加压素1a受体已被确定为田鼠、人类和其他哺乳动物社会行为的关键决定因素。然而,物种和个体之间社会行为和交配行为差异等复杂表型特征的遗传基础仍 largely unknown。与之前关注该基因启动子区域差异的研究相反,我们在此研究该基因座编码区(外显子1)的功能变异水平。
我们检测到高等哺乳动物类群之间以及田鼠属物种之间存在高度的序列多样性。这包括长度变异、氨基酸的根本性变化,以及个体内存在不同的蛋白质变体。此外,精氨酸加压素受体1a(avpr1a)基因第一个外显子的大部分区域存在负选择,但它包含变化率较高且含有正选择位点的区域。与其他基因相比,avpr1a基因的同义替换率和非同义替换率并无异常,但超过了具有相似功能的相关激素受体中的替换率。
这些结果强调了在研究田鼠、其他哺乳动物尤其是人类的生活史特征(如社会行为、交配系统、栖息地需求)关联时,考虑avpr1a编码序列变异的重要性。