学科带头人 姚永刚 研究员 博士生导师

姚永 刚研究员，1975年10月生于安徽省枞阳县。1997年毕业于安徽师范大学生物系获学士学位，2003年于中国科学院昆明动物研究所获得理学博士学位，同年2月后赴约翰霍普金斯大学医学院 (The Johns Hopkins University School of Medicine) 从事博士后研究工作，2004年10月转至美国国家健康研究院心脏、肺、血液研究所(National Heart, Lung, and Blood Institute, National Institutes of Health)学习和工作，2007年12月通过中国科学院“百人计划”引进回昆明动物研究所工作。现为疾病机理遗传学和进化医学实验室负责人。

研究方向

主要从事人类和家养动物相关疾病的研究工作，对mtDNA疾病的进化医学、中华民族源流和家养动物的起源、血液干细胞mtDNA变异和衰老的关系、VEGF刺激血管内皮细胞及其在皮肤细胞中的表达有较为深入的研究。首次系统地分析了我国民族人群mtDNA遗传多态情况，构建了东亚人群mtDNA的系统发育关系，讨论了分子人类学和mtDNA进化医学中多个重要问题。首次发现国人Leber氏遗传性视神经病变发病受到线粒体遗传背景的影响，该成果被Nature China列为2008年12月份的研究亮点。采用单细胞分析方法，研究了白血病细胞和自然衰老过程中小鼠血液干细胞mtDNA的变异情况，发现白血病细胞mtDNA变异很大，产生机制复杂，作为临床诊断标记作用有限；小鼠血液干细胞在衰老过程中积累的mtDNA突变有品系差异，受核基因影响，与其体外发育潜能以及细胞中活性氧水平没有相关性。血液干细胞中某些mtDNA突变在体内比较稳定，可作为标记示踪移植过程中干细胞的动态。发现VEGF刺激血管内皮细胞DSCR1和 PlGF基因表达通过不同的调控途径。近年来已在American Journal of Human Genetics，Blood，Human Molecular Genetics，PLoS Medicine，Human Mutation，Journal of Medical Genetics，Molecular Biology and Evolution，Human Genetics和Genome Biology等国内外著名期刊发表论文和评述69篇，其中SCI论文61篇。截止2008年12月份被SCI引用1100多次，具有较为广泛的国际影响。博士论文获得2005年度全国百篇优秀博士论文，研究工作先后获得2005年度云南省科学技术奖一等奖(自然科学类)和2006年度国家自然科学奖二等奖等多项奖项。先后受邀为20多个SCI期刊包括American Journal of Human Genetics, Human Mutation, Journal of Medical Genetics, Stem Cells, Nucleic Acids Research等国际著名杂志审稿。

学科组长期的研究工作目标是对于一些重要的与代谢、衰老和肿瘤等有关的疾病或器官功能障碍进行线粒体基因组和核基因突变研究，并从细胞和分子层次进行功能实验，阐述其中机理，为疾病的防治和遗传咨询提供依据和指导。近期的研究方向主要包括：

1）Leber氏遗传性视神经病变的诱发因子与发病机制研究

2）线粒体突变和遗传背景在重要退行性疾病发生过程中的作用

3）线粒体与端粒、端粒酶的相互作用对细胞衰老和凋亡的影响

4）信号传导途径基因体细胞突变在肿瘤发生过程中的作用

5）重要家养动物肉质和抗病基因研究

本课题组虽然组建时间不长，但现有一支年轻有为、勇于创新、崇尚协作的团队，其中包括助理研究员一名（庄馨瑛博士），研究实习员一名（余丹丹硕士），博士研究生三名（张阿梅、邹阳、张文）和硕士研究生一名（肖梅生）。与国内中山大学中山眼科医院、四川农业大学、德国University of Hamburg、西班牙Universidad de Santiago de Compostela等多家单位建立了良好的合作关系。

科研任务（2003-今）

注：括号内为主持的项目数。

研究团队（2003-今）

发表论文及评论(#第一作者，* 通信作者)

2008年发表论文

[1]Ji Y, Zhang A-M, Jia X, Zhang Y-P, Xiao X, Li S, Guo X, Bandelt H-J, Zhang Q, Yao YG*: Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of Leber Hereditary Optic Neuropathy in Chinese families with the m.11778G→A mutation. American Journal of Human Genetics 2008, 83: 760-768.

[2]Bandelt H-J, Salas A, Taylor RW, Yao YG*: The exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Human Mutation 2008, (In press).

[3]Yao YG*, Kong Q-P, Salas A, Bandelt H-J: Pseudo-mitochondrial genome haunts disease studies. Journal of Medical Genetics 2008, 45: 769-772

[4]Bandelt H-J, Yao Y-G, Bravi CM, Salas A, Kivisild T: Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies. Journal of Human Genetics 2008.

[5]He DQ, Zhu Q, Chen S-Y, Wang H-Y, Liu YP*, Yao YG*: A homogenous nature of Chinese native duck matrilineal pool. BMC Evolutionary Biology 2008, 8: 298.

[6]Bandelt H-J, Yao YG, Richards M, Salas A: The brave new era of human genetic testing. BioEssays 2008, 30: 1246-1251.

[7]Kong QP, Salas A, Sun C, Fuku N, Tanaka M, Zhong L, Wang CY, Yao YG, Bandelt HJ: Distilling artificial recombinants from large sets of complete mtDNA genomes. PLoS ONE 2008, 3: e3016.

[8]Zhang A-M, Jia X, Yao YG*, Zhang Q*: Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy. Biochemical and Biophysical Research Communications 2008, 376: 221-224.

[9]Wang H-W, Jia X, Ji Y, Kong Q-P, Zhang Q*, Yao YG*, Zhang YP: Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 2008, 643: 48-53.

[10]Bandelt H-J, Yao YG, Salas A: The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor. International Journal of Cardiology 2008, 126: 439-442.

[11]Liu Y-P, Cao SX, Chen SY, Yao YG, Liu TZ: Genetic diversity of Chinese domestic goat based on the mitochondrial DNA sequence variation. Journal of Animal Breeding and Genetics 2008, (In press).

[12]Chen SY,Liu YP,Wang W, Gao CZ, Yao YG, Lai SJ: Dissecting the matrilineal components of Tongjiang cattle from southwest China. Biochemical Genetics 2008, 46: 206-215.

2007年发表论文

[1]Ji Y, Jia X, Zhang Q, Yao YG: mtDNA haplogroup distribution in Chinese patients with Leber’s hereditary optic neuropathy and G11778A mutation. Biochemical and Biophysical Research Communications 2007, 364: 238-242.

[2]Wu GS, Yao YG#, Qu KX, DingZL, Li H, Palanichamy Mg, Duan ZY,Li N, Chen YS, Zhang YP: Population phylogenomic analysis of mitochondrial DNA in wild boars and domestic pigs revealed multiple domestication events in East Asia.Genome Biology2007, 8: R245.

[3]Yao YG*, Childs RW, Kajigaya S, McCoy JP, Jr, Young NS: Mitochondrial DNA sequence heterogeneity of single CD34+ cells after nonmyeloablative allogeneic stem cell transplantation. Stem Cells 2007, 25: 2670-2676.

[4]Yao YG*, Bandelt HJ, Young NS: External contamination in single cell mtDNA analysis. PLoS ONE 2007, 2: e681.

[5]Wang CY, Wang HW, Yao YG, Kong QP, Zhang YP: Somatic mutations of mitochondrial genome in early stage breast cancer. International Journal of Cancer 2007, 121: 1253-1256.

[6]Bandelt HJ, Olivieri A, Bravi C, Yao YG, Torroni A, Salas A: ‘Distorted’ mitochondrial DNA sequences in schizophrenic patients. European Journal of Human Genetics 2007, 15: 400-402.

[7]Yao YG*, Ogasawara Y, Kajigaya S, Molldrem JJ, Falcão RP, Pintão MC, McCoy JC, Jr, Rizzatti EG, Young NS: Mitochondrial DNA sequence variation in single cells from leukemia patients. Blood 2007, 109: 756-762.

[8]Yao YG*, Ellison FM, McCoy JP, Jr, Chen J, Young NS: Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background. Human Molecular Genetics 2007, 16: 286-294.

[9]Lai SJ, Chen SY, Liu YP, Yao YG: Mitochondrial DNA sequence diversity and origin of Chinese domestic yak. Animal Genetics 2007, 38: 77-80.

[10]Bandelt HJ, Yao YG, Salas A, Kivisild T, Bravi CM: High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients. Biochemical and Biophysical Research Communications 2007, 352: 283-291.

2006年发表论文

[1]Wang CY, Kong QP, Yao YG*, Zhang YP: MtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese. Biochemical and Biophysical Research Communications 2006, 348: 712-715.

[2]Man XY, Yang XH, Cai SQ, Yao YG, Zheng M: Immunolocalization and expression of vascular endothelial growth factor receptors (VEGFRs) and neuropilins (NRPs) on keratinocytes in human epidermis. Molecular Medicine 2006, 12: 127-136.

[3]Yang XH, Man XY, Cai SQ, Yao YG, Bu ZY, Zheng M: Expression of VEGFR-2 on HaCaT cells is regulated by VEGF and plays an active role in mediating VEGF induced effects. Biochemical and Biophysical Research Communications2006,349: 31-38.

[4]Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang C-Y, Zhong L, Zhu C-L, Wu SF, Torroni A, Zhang YP: Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Human Molecular Genetics 2006, 15: 2076-2086.

[5]Yao YG*,Salas A, Bravi CM, Bandelt HJ: A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Human Genetics 2006, 119: 505-515.

[6]Salas A, Yao YG, Bandelt HJ: Mitochondria: more than mitochondrial DNA in cancer - author’s reply. PLoS Medicine2006, 3: e166.

[7]Sun C, Kong QP, Palanichamy MG, Agrawal S, Bandelt HJ, Yao YG, Khan F, Zhu CL, Chaudhuri TK, Zhang YP: The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Molecular Biology and Evolution 2006, 23: 683-690.

[8]Palanichamy MG, Agrawal S, Yao YG, Kong QP, Sun C, Khan F, Chaudhuri TK, Zhang YP: Comment on ‘‘Reconstructing the origin of Andaman islanders’’. Science2006, 311: 470.

[9]Liu YP, Zhu Q, Yao YG*: Genetic relationship of Chinese and Japanese gamecocks revealed by mtDNA sequence variation. Biochemical Genetics 2006, 44: 19-29.

[10]Liu YP, Wu GS, Yao YG, Miao YW,Luikart G, Baig M, Beja-Pereira A, Ding ZL, Palanichamy MG, Zeng FT, Qiu XP, Zhang YP: Multiple maternal origins of chickens: out of the Asian jungles? Molecular Phylogenetics and Evolution 2006, 38: 12-19.

[11]Lai SJ,Liu YP*, Liu YX, Li XW, Yao YG*:Genetic diversity and origin of Chinese cattle revealed by mtDNA D-loop sequence variation.Molecular Phylogenetics and Evolution 2006, 38: 146-154.

2005年发表论文

[1]Salas A, Yao YG, Macaulay V, Vega A, Carracedo A, Bandelt HJ: A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Medicine 2005, 2: e296.

[2]Bandelt HJ, Achilli A, Kong QP, Salas A, Lutz-Bonengel S, Sun C, Zhang YP, Torroni A, Yao YG: Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies. Biochemical and Biophysical Research Communications 2005, 333: 122-130.

[3]Yao YG#, Yang HS, Cao Z, Danielsson J, Duh EJ: Upregulation of placental growth factor by vascular endothelial growth factor via a post-transcriptional mechanism. FEBS Letters 2005, 579: 1227-1234.

[4]Bandelt HJ, Yao YG, Kivisild T: Mitochondrial genes and schizophrenia. Schizophrenia Research 2005, 72: 267-269.

2004年发表论文

[1]Yao YG#, Kong QP, Wang CY, Zhu CL, Zhang YP: Different matrilineal contributions to genetic structure of ethnic populations in Silk-Road region in China. Molecular Biology and Evolution 2004,21: 2265-2280.

[2]Yao YG#, Duh EJ: VEGF selectively induces down syndrome critical region 1 gene expression in endothelial cells: a mechanism for feedback regulation of angiogenesis? Biochemical and Biophysical Research Communications 2004, 321: 648-656.

[3]Yao YG#, Bravi CM, Bandelt HJ: A call for mtDNA data quality control in forensic science. Forensic Science International 2004, 141: 1-6.

[4]Kong QP, Yao YG, Sun C, Zhu CL, Zhong L, Wang CY, Cai WW, Xu XM, Xu AL, Zhang YP: Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic. Journal of Human Genetics 2004, 49: 414-423.

[5]Duh EJ, Yao YG, Dagli M, Goldberg MF: Persistence of fetal vasculature in a patient with Knobloch Syndrome: potential role for endostatin in fetal vascular remodeling of the eye. Ophthalmology 2004, 111: 1885-1888.

[6]Luan YX, Yao YG, Xie RD, Yang YM, Zhang YP, Yin WY: Analysis of 18S rRNA gene of Octostigma sinensis (Projapygoidea: Octostigmatidae) supports the monophyly of Diplura. Pedobiologia 2004, 48: 453-459.

2003年发表

[1]Yao YG*, Macaulay V, Kivisild T, Zhang YP, Bandelt HJ: To trust or not to trust an idiosyncratic mitochondrial data set. American Journal of Human Genetics 2003, 72: 1341-1346.

[2]Yao Y-G*, Macaulay V, Kivisild T, Zhang YP, Bandelt HJ: Mitochondrial DNA variation in Amerindians - Reply to Silva et al. American Journal of Human Genetics 2003, 72: 1348-1349.

[3]Yao YG#, Zhang YP: Pitfalls in the analysis of ancient human mtDNA. Chinese Science Bulletin 2003, 48: 826-830.

[4]Yao YG#, Kong QP, Sun C, Zhang YP: Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny? Chinese Science Bulletin 2003, 48: 663-667.

[5]Yao YG#, Kong QP, Man XY, Bandelt HJ, Zhang YP: Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Molecular Biology and Evolution 2003, 20: 214-219.

[6]Kong QP, Yao YG, Liu M, Chen C, Zhu CL, Palanichamy MG, Zhang YP : Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Human Genetics 2003, 113: 391-405.

[7]Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP: Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. American Journal of Human Genetics 2003, 73: 671-676.

[8]Bandelt HJ, Herrnstadt C, Yao YG, Kong QP, Kivisild T, Rengo C, Scozzari R, Richards M, Villems R, Macaulay V, Howell N, Torroni A, Zhang YP: Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Annals of Human Genetics 2003, 67: 512-524.

[9]Kong QP, Yao YG, Huang SY, Huang JF, Zhang YP: Mitochondrial DNA control region and cytochrome b sequence variation in the genus Mystacoleucus Günther (Pisces: Cyprinidae: Barbinae) from China. Biochemical Genetics 2003, 41: 305-313.

[10]Man XY, Luo HR, Li XP, Yao YG, Mao CZ, Zhang YP: Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese. Animals of the Rheumatic Diseases2003, 62: 71-73.

2002年发表论文

[1]Yao YG#, Kong QP, Bandelt HJ, Kivisild T, Zhang YP: Phylogeographic differentiation of mitochondrial DNA in Han Chinese. American Journal of Human Genetics 2002, 70: 635-651.

[2]Yao YG#, Nie L, Harpending H, Fu YX, Yuan ZG, Zhang YP: Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. American Journal of Physical Anthropology 2002, 118: 63-76.

[3]Yao YG#, Zhang YP: Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. Journal of Human Genetics2002, 47: 311-318.

[4]Yao YG#, Kong QP, Zhang YP: Mitochondrial DNA 5178A polymorphism and longevity. Human Genetics 2002, 111: 462-463.

[5]Luo HR, Lü XM, Yao YG, Horie N, Takeishi K, Jorde LB, Zhang YP: Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles. Biochemical Genetics 2002, 40: 41-51.

[6]Zhang YW, Fang YH, Long HS, Yao YG, Cai Q, Zhang YP: Sequence variation of rbcL gene and evolution of Saccharum and related species.云南植物研究2002, 24: 29-36.

2002年以前发表论文

[1]Yao YG#, Yuan ZG, Zhou ZD, Geng PL, Li QW, Zhang YP: Frequency of the mtDNA 9-bp deletion in Chinese ethnic groups. Progress in Natural Science 2001, 11: 358-364.

[2]Yang ZQ, Zuo YX, Yao YG, Chen XW, Yang GC, Zhang YP: Analysis of the 18S rRNA genes of Sarcocystis species suggests that the morphologically similar organism from cattle and water buffalo should be considered the same species. Molecular and Biochemical Parasitology 2001, 115: 283-288.

[3]姚永刚#，孔庆鹏，张亚平: 人类线粒体DNA变异的检测方法和思路. 动物学研究 2001, 22: 321-331.

[4]袁志刚，姚永刚，马志雄，庞启平，接燕荣，马军，张亚平: 广西壮族人群线粒体DNA序列遗传多态性分析. 遗传学报2001，28: 95-102.

[5]余跃生，姚永刚，孔庆鹏，戎聚全，罗载刚，任光祥，张亚平: 贵州水族人群线粒体DNA序列多态分析. 遗传学报2001，28: 691-698.

[6]Yao YG#, Watkins WS, Zhang YP: Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of East and Southeast Asia. Human Genetics 2000, 107: 504-512.

[7]Yao YG#, Lü XM, Luo HR, Li WH, Zhang YP:Gene admixture in the silk road of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes & Genetic Systems2000, 75: 173-178.

[8]Ding YC, Wooding S, Harpending H, Chi HC, Li HP, Fu YX, Pang JF, Yao YG, Xiang YJG, Moyzis R, Zhang YP: Population structure and history in East Asia. Proceedings of the National Academy of Sciences of the United States of America 2000, 97: 14003-14006.

[9]姚永刚，张亚平: 线粒体DNA和人类进化.动物学研究 2000, 21: 392-406.

[10]周继亮, 姚永刚, 黄美华, 杨大同, 吕顺清, 张亚平: 蝰科(Viperidae)蝮亚科(Crotalinae)线粒体12S rRNA序列分析的系统发育研究. 遗传学报2000, 27: 283-289.

2006年 国家自然科学奖二等奖：“线粒体基因组多样性与东亚人群历史的研究”（张亚平、姚永刚、孔庆鹏、丁远春、孙昌）

2005年 云南省科学技术奖（自然科学类）一等奖：“线粒体基因组多样性与东亚人群历史的研究”（张亚平、姚永刚、孔庆鹏、丁远春、孙昌）

2005年 全国百篇优秀博士论文

2004年  中国科学院研究生院优秀博士论文

2004年 云南省科学技术奖三等奖(科学技术进步类)：“ß2肾上腺素受体遗传多态性与哮喘关系研究”（戴路明、张亚平、陆信、姚永刚、杨敏、张剑青、方利洲）

2003年  云南省科学技术奖三等奖(科学技术进步类)：“云南汉族系统性红斑狼疮与补体C4、C2基因相关性研究”（李学平、张亚平、满孝勇、姚永刚、冒长峙、罗怀容、郑经芬）

2002年  中国科学院院长奖特别奖

2001年  德意志学术交流中心短期奖学金

2000年 中国科学院地奥奖学金和院长奖学金优秀奖