2015年中国医学遗传学研究领域若干重要进展

doi:10.16288/j.yczz.16-174

遗传 ›› 2016, Vol. 38 ›› Issue (5): 363-390.doi: 10.16288/j.yczz.16-174

• 特邀综述 • 下一篇

2015年中国医学遗传学研究领域若干重要进展

李元丰¹, 韩玉波², 曹鹏博¹, 孟金凤¹, 李海北¹, 秦庚¹, 张锋³, 靳光付⁴, 杨勇⁵, 邬玲仟⁶, 平杰¹, 周钢桥¹

1. 中国人民解放军军事医学科学院放射与辐射医学研究所,北京蛋白质组研究中心,蛋白质组学国家重点实验室,北京 100850;
2. 中国科学院遗传与发育生物学研究所,北京 100101;
3. 复旦大学生命科学学院遗传工程国家重点实验室,上海 200438;
4. 南京医科大学生殖医学国家重点实验室,南京 210029;
5. 北京大学第一医院皮肤科,北京 100034;
6. 中南大学医学遗传学国家重点实验室,长沙 410008

收稿日期:2016-04-27 修回日期:2016-05-13 出版日期:2016-05-20 发布日期:2016-05-19
通讯作者: 周钢桥,研究员,研究方向：医学遗传学与基因组学。E-mail: zhougq114@126.com

Research advances on medical genetics in China in 2015

Yuanfeng Li¹, Yubo Han², Pengbo Cao¹, Jinfeng Meng¹, Haibei Li¹, Geng Qin¹, Feng Zhang³, Guangfu Jin⁴, Yong Yang⁵, Lingqian Wu⁶, Jie Ping¹, Gangqiao Zhou¹

1. State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing 100850, China;
2. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;
3. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China;
4. State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China;
5. Department of Dermatology, Peking University First Hospital, Beijing 100034, China;
6. State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China

Received:2016-04-27 Revised:2016-05-13 Online:2016-05-20 Published:2016-05-19

摘要/Abstract

摘要： 2015年中国医学遗传学稳步发展,众多具有原创性的研究论文在国际顶级杂志上发表。中国科学家在医学遗传学的诸多领域,如罕见疾病的致病基因、复杂疾病的易感基因、癌症的体细胞突变、遗传学新方法新技术、疾病相关微小RNA(microRNA,miRNA)、疾病相关长链非编码RNA(Long non-coding RNA,lncRNA)、疾病相关竞争性内源RNA(Competing endogenous RNA,ceRNA)、疾病相关可变剪接和分子进化等研究领域均取得了突破性的进展。中国科学家在医学遗传学研究中逐步从常见变异延伸到罕见变异,从遗传学现象的描述到功能机制的确证,从单组学分析扩展至多组学数据整合,从基础研究走向临床应用。同时,中国科学家的研究成果引起了国际同行的高度关注。本文概括性综述了2015年中国科学家在医学遗传学领域取得的若干重要研究进展,旨在追踪当前中国医学遗传学领域发展的前沿,与国内读者分享我国科学家在该领域取得的重要成果以及研究思路。

关键词: 中国, 医学遗传学, 表观遗传学, 研究进展, 2015年

Abstract: Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world’s leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer, new technologies and methods, disease-related microRNAs (miRNAs), disease-related long non-coding RNAs (lncRNAs), disease-related competing endogenous RNAs (ceRNAs), disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important findings and their research strategy.

Key words: China, medical genetics, epigenetics, research advances, 2015

李元丰, 韩玉波, 曹鹏博, 孟金凤, 李海北, 秦庚, 张锋, 靳光付, 杨勇, 邬玲仟, 平杰, 周钢桥. 2015年中国医学遗传学研究领域若干重要进展[J]. 遗传, 2016, 38(5): 363-390.

Yuanfeng Li, Yubo Han, Pengbo Cao, Jinfeng Meng, Haibei Li, Geng Qin, Feng Zhang, Guangfu Jin, Yong Yang, Lingqian Wu, Jie Ping, Gangqiao Zhou. Research advances on medical genetics in China in 2015[J]. HEREDITAS(Beijing), 2016, 38(5): 363-390.

参考文献

[1] Li BS, Li H, Bai Y, Kirschner-Schwabe R, Yang JJ, Chen Y, Lu G, Tzoneva G, Ma XT, Wu TM, Li WJ, Lu HS, Ding LX, Liang HH, Huang XH, Yang MJ, Jin L, Kang H, Chen ST, Du A, Shen SH, Ding JP, Chen HZ, Chen J, von Stackelberg A, Gu LJ, Zhang JH, Ferrando A, Tang JY, Wang SY, Zhou BB. Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL. Nat Med , 2015, 21(6): 563-571.
[2] Mullighan CG. Mutant PRPS1: a new therapeutic target in relapsed acute lymphoblastic leukemia. Nat Med , 2015, 21(6): 553-554.
[3] Guo F, Yan LY, Guo HS, Li L, Hu BQ, Zhao YY, Yong J, Hu YQ, Wang XY, Wei Y, Wang W, Li R, Yan J, Zhi X, Zhang Y, Jin HY, Zhang WX, Hou Y, Zhu P, Li JY, Zhang L, Liu SR, Ren YX, Zhu XH, Wen L, Gao YQ, Tang FC, Qiao J. The transcriptome and DNA methylome landscapes of human primordial germ cells. Cell , 2015, 161(6): 1437-1452.
[4] Liu BD, Sun LJ, Liu Q, Gong C, Yao YD, Lv XB, Lin L, Yao HR, Su FX, Li DS, Zeng MS, Song EW. A cytoplasmic NF-κB interacting long noncoding RNA blocks IκB phosphorylation and suppresses breast cancer metastasis. Cancer Cell , 2015, 27(3): 370-381.
[5] Lin XJ, Chong YT, Guo ZW, Xie C, Yang XJ, Zhang Q, Li SP, Xiong YJ, Yuan YF, Min J, Jia WH, Jie YS, Chen MS, Chen MX, Fang JH, Zeng CX, Zhang YJ, Guo RP, Wu YK, Lin GL, Zheng LM, Zhuang SM. A serum microRNA classifier for early detection of hepatocellular carcinoma: a multicentre, retrospective, longitudinal biomarker identification study with a nested case-control study. Lancet Oncol , 2015, 16(7): 804-815.
[6] Forner A. Hepatocellular carcinoma surveillance with miRNAs. Lancet Oncol , 2015, 16(7): 743-745.
[7] Carter CO. Monogenic disorders. J Med Genet , 1977, 14(5): 316-320.
[8] Cai T, Yang L, Cai WS, Guo S, Yu P, Li JC, Hu XY, Yan M, Shao QZ, Jin Y, Sun ZS, Luo ZJ. Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. Proc Natl Acad Sci USA , 2015, 112(26): 8064-8069.
[9] Qin YY, Guo T, Li GY, Tang TS, Zhao SD, Jiao X, Gong JJ, Gao F, Guo CX, Simpson JL, Chen ZJ. CSB-PGBD3 mutations cause premature ovarian failure. PLoS Genet , 2015, 11(7): e1005419.
[10] Wu N, Ming X, Xiao JQ, Wu ZH, Chen XL, Shinawi M, Shen YP, Yu GJ, Liu JQ, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu PF, Su XL, Pan XD, Liu CY, Wang LW, , Shen J, Shen JX, Chen YL, Zhang T, Zhang JG, Choy KW, Wang J, Wang QQ, Li SG, Zhou WC, Guo J, Wang YP, Zhang C, Zhao H, An Y, Zhao Y, Wang JC, Liu ZL, Zuo YZ, Tian Y, Weng XS, Sutton VR, Wang HY, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu GX, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med , 2015, 372(4): 341-350.
[11] Zhang ZH, Li CH, Wu F, Ma RX, Luan J, Yang F, Liu WD, Wang L, Zhang SM, Liu Y, Gu J, Hua WL, Fan M, Peng H, Meng XM, Song NJ, Bi XL, Gu CY, Zhang Z, Huang Q, Chen LJ, Xiang LH, Xu JH, Zheng ZZ, Jiang ZW. Genomic variations of the mevalonate pathway in porokeratosis. eLife , 2015, 4: e06322.
[12] Lin ZM, Zhao JH, Nitoiu D, Scott CA, Plagnol V, Smith FJD, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang HJ, Feng C, Duo LN, Zhou EY, Ren YL, Dai LL, Chen YL, Zhang JG, Xu X, O'Toole EA, Kelsell DP, Yang Y. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet , 2015, 96(3): 440-447.
[13] MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature , 2014, 508(7497): 469-476.
[14] Zhou SR, Xie Y

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2015年中国医学遗传学研究领域若干重要进展

Research advances on medical genetics in China in 2015

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