Cáceres Mario, Thomas James W
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
J Hered. 2006 Mar-Apr;97(2):100-6. doi: 10.1093/jhered/esj011. Epub 2006 Jan 19.
Syncytin 1 is one of the best known examples of recent acquisition of a new gene from an endogenous retrovirus (HERV) in the human genome and has been implicated in placental physiology. Within primates, Syncytin 1 is conserved in all hominoids but has not been characterized in Old World monkeys (OWMs). In this study, we investigated the status of Syncytin 1 in 14 hominoid and OWM species. We show that although the HERV-W provirus responsible for the origin of this gene was present in the genome of the most recent common ancestor of hominoids and OWMs, Syncytin 1 is inactive in OWMs. In addition, we were able to determine that the evolution of Syncytin 1 in hominoids involved an accumulation of amino acid changes and showed signatures of both positive and purifying selection. Our results indicate that Syncytin 1 is indeed a hominoid-specific gene and illustrate the complex and dynamic process associated with the origin of new genes.
合胞素1是人类基因组中近期从内源性逆转录病毒（HERV）获得新基因的最著名例子之一，并且与胎盘生理功能有关。在灵长类动物中，合胞素1在所有类人猿中都保守存在，但在旧世界猴（OWM）中尚未得到表征。在本研究中，我们调查了14种类人猿和旧世界猴物种中合胞素1的状况。我们表明，尽管负责该基因起源的HERV-W前病毒存在于类人猿和旧世界猴最近共同祖先的基因组中，但合胞素1在旧世界猴中是无活性的。此外，我们能够确定合胞素1在类人猿中的进化涉及氨基酸变化的积累，并显示出正选择和纯化选择的特征。我们的结果表明，合胞素1确实是类人猿特异性基因，并说明了与新基因起源相关的复杂和动态过程。
