A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory
文献类型：期刊论文
| 作者 | Lu ZX1,2,3; Peng J1,2; Su B[*]1,2 |
| 刊名 | HUMAN MUTATION
 |
| 出版日期 | 2007 |
| 卷号 | 28期号:10页码:978-984 |
| 关键词 | neuropsin kallikrein 8 KLK8 alternative splicing cognition human evolution |
| ISSN号 | 1059-7794 |
| 通讯作者 | sub@mail.kiz.ac.cn |
| 英文摘要 | Neuropsin (kallikrein 8, KLK8) is a secreted-type serine protease preferentially expressed in the central nervous system and involved in learning and memory. Its splicing pattern is different in human and mouse, with the longer form (type II) only expressed in human. Sequence analysis suggested a recent origin of type II during primate evolution. Here we demonstrate that the type II form is absent in nonhuman primates, and is thus a human-specific splice form. With the use of an in vitro splicing assay, we show that a human-specific T to A mutation (c.71-127T>A) triggers the change of splicing pattern, leading to the origin of a novel splice form in the human brain. Using mutation assay, we prove that this mutation is not only necessary but also sufficient for type II expression. Our results demonstrate a molecular mechanism for the creation of novel proteins through alternative splicing in the central nervous system during human evolution. |
| 收录类别 | SCI |
| 资助信息 | Natural Science Foundation ofYunnan Province of China; ChineseAcademy of Sciences; Grant number: KSCX1-YW-R- 34; Grant sponsor: National Natural Science Foundation of China; Grant numbers:30370755,30525028, and 30630013;Grant sponsor: National 973 Project of China;Grant number:2006CB701506. |
| 原文出处 | 200728978.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/2151]  |
| 专题 | 昆明动物研究所_比较基因组学 昆明动物研究所_中国科学院昆明灵长类研究中心 昆明动物研究所_细胞与分子进化重点实验室 |
| 作者单位 | 1.Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 2.Kunming Primate Research Center, Chinese Academy of Sciences, Kunming, China 3.Graduate School, Chinese Academy of Sciences, Beijing, China |
| 推荐引用方式 GB/T 7714 | Lu ZX,Peng J,Su B[*]. A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory[J]. HUMAN MUTATION,2007,28(10):978-984. |
| APA | Lu ZX,Peng J,&Su B[*].(2007).A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory.HUMAN MUTATION,28(10),978-984. |
| MLA | Lu ZX,et al."A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory".HUMAN MUTATION 28.10(2007):978-984. |
入库方式： OAI收割
来源：昆明动物研究所
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