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  • Erratum: Genomic insights into salt adaptation in a desert poplar

    • 摘要:

    • 作者:

      Ma Tao    Wang Junyi    Zhou Gongke    Yue Zhen    Hu Quanjun    Chen Yan    Liu Bingbing    Qiang Qiu    王卓    Zhang Jian    Wang Kun    Jiang Dechun    Gou Caiyun    Yu Lili    Zhan Dongliang    Zhou Ran    Luo Wenchun    Hui Ma    Yang Yongzhi    Shengkai Pan    Fang Dongming    Yadan Luo    Wang Xia    Wang Gaini    Wang Juan    Wang Qian    Lu Xu    Chen Zhe    Liu Jinchao    Yao Lu    Ye Yin    杨焕明     Richard Abbott    Wu Yuxia    Wan Dongshi    Li Jia    Tongming Yin    Lascoux Martin    DiFazio Stephen P.    Gerald Tuskan    Liu Jianquan   

    • 刊名:

      Nature Communications

    • 在线出版时间:

      2014

  • Identification of genomic alterations in oesophageal squamous cell cancer

    • 摘要:

      Oesophageal cancer is one of the most aggressive cancers and is the sixth leading cause of cancer death worldwide. Approximately 70% of global oesophageal cancer cases occur in China, with oesophageal squamous cell carcinoma (ESCC) being the histopathological form in the vast majority of cases (>90%). Currently, there are limited clinical approaches for the early diagnosis and treatment of ESCC, resulting in a 10% five-year survival rate for patients. However, the full repertoire of genomic events leading to the pathogenesis of ESCC remains unclear. Here we describe a comprehensive genomic analysis of 158 ESCC cases, as part of the International Cancer Genome Consortium research project. We conducted whole-genome sequencing in 17 ESCC cases and whole-exome sequencing in 71 cases, of which 53 cases, plus an additional 70 ESCC cases not used in the whole-genome and whole-exome sequencing, were subjected to array comparative genomic hybridization analysis. We identified eight significantly mutated genes, of which six are well known tumour-associated genes (TP53, RB1, CDKN2A, PIK3CA, NOTCH1, NFE2L2), and two have not previously been described in ESCC (ADAM29 and FAM135B). Notably, FAM135B is identified as a novel cancer-implicated gene as assayed for its ability to promote malignancy of ESCC cells. Additionally, MIR548K, a microRNA encoded in the amplified 11q13.3-13.4 region, is characterized as a novel oncogene, and functional assays demonstrate that MIR548K enhances malignant phenotypes of ESCC cells. Moreover, we have found that several important histone regulator genes (MLL2 (also called KMT2D), ASH1L, MLL3 (KMT2C), SETD1B, CREBBP and EP300) are frequently altered in ESCC. Pathway assessment reveals that somatic aberrations are mainly involved in the Wnt, cell cycle and Notch pathways. Genomic analyses suggest that ESCC and head and neck squamous cell carcinoma share some common pathogenic mechanisms, and ESCC development is associated with alcohol drinking. This study has explored novel biological markers and tumorigenic pathways that would greatly improve therapeutic strategies for ESCC. © 2014 Macmillan Publishers Limited.

    • 作者:

      Song Yongmei    Li Lin    Ou Yun-wei    Zhibo Gao    Enmin Li    Xiangchun Li    Zhang Weimin    Wang Jiaqian    Liyan Xu    Zhou Yong    Ma Xiaojuan    Liu Lingyan    Zhao Zitong    Huang Xuanlin    Fan Jing    Lijia Dong    Chen Gang    Ma Liying    Yang Jie    Longyun Chen    Minghui He    Miao Li    Zhuang Xuehan    Huang Kai    Qiu Kunlong    Yin Guangliang    Guangwu Guo    Qiang Feng    Chen Peishan    Zhiyong Wu    Wu Jianyi    Ma Ling    Zhao Jinyang    Luo Longhai    Fu Ming    Bainan Xu    Chen Bo    李英睿    Tong Tong    Wang Mingrong    Zhihua Liu    林东昕    Xiuqing Zhang    杨焕明     王俊    詹启敏   

    • 刊名:

      Nature

    • 在线出版时间:

      2014

  • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

    • 摘要:

      A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved.

    • 作者:

      Delaneau Olivier    Marchini Jonathan    McVeanh Gil A.    Peter Donnelly    Gerton Lunter    Jonathan Marchini    Simon Myers    Gupta-Hinch Anjali    Zamin Iqbal    Iain Mathieson    Andy Rimmer    Dionysia kiara Xifara    Kerasidou Angeliki    Claire Churchhouse    David Altshuler    Stacey bolk Gabriel    Eric Lander    Namrata Gupta    Mark Daly    Mark DePristo    Eric Banks    Gaurav Bhatia    Mauricio Carneiro    Del Angel Guillermo    Giulio Genovese    Robert Handsaker    Christopher Hartl    Steven McCarroll    James Nemesh    Ryan Poplin    Stephen Schaffner    Khalid Shakir    Pardis Sabeti    Sharon Grossman    Shervin Tabrizi    Ridhi Tariyal    Li Heng    David Reich    Richard Durbin    Matthew Hurles    Senduran Balasubramaniam    John Burton    Petr Danecek    Keane    Anja Kolb-Kokocinski    McCarthy Shane E.    Jim Stalker    Michael Quail    Ayub Qasim    Yuan Chen    Coffey Alison J.    Colonna Vincenza    Ni Huang    Luke Jostins    Aylwyn Scally    Klaudia ho Walter    Xue Yali    Yujun Zhang    Benjamin Blackburne    Sarah Lindsay    Zemin Ning    Adam Frankish    Jennifer Harrow    Chris Tyler -S.    Gonçalo Abecasis    Hyunmin Kang    Anderson Paul    Thomas Blackwell    Busonero Fabio    Fuchsberger Christian    Goo Jun    Andrea Maschio    Porcu Eleonora    Carlo Sidore    Tan Adrian    Trost Mary Kate    David Bentley    Russell james Grocock    Sean Humphray    Terena James    Zoya Kingsbury    Markus Bauer    Keira Cheetham    Tony Cox    Michael Eberle    Lisa Murray    Richard Shaw    Aravinda Chakravarti    Andrew Clark    Alon Keinan    Rodriguez-Flores Juan L.    De LaVega Francisco M.    Jeremiah Degenhardt    Evan Eichler    Paul Flicek    Laura Clarke    Rasko Leinonen    Richard Smith    Xiangqun Zheng-Bradley    Kathryn Beal    Fiona Cunningham    Javier Herrero    William McLaren    Graham rs Ritchie    Jonathan Barker    Kelman Gavin    Eugene Kulesha    Rajesh Radhakrishnan    Roa Asier    Dmitriy Smirnov    Ian Streeter    Iliana Toneva    Richard Gibbs    Huyen Dinh    Christie Kovář C    Sandra Lee    Lora Lewis    Donna marie Muzny    Reid Jeff    Wang Min    Fuli Yu    Matthew Bainbridge    Daniel Challis    Uday Evani    Lu James T.    Uma Nagaswamy    Aniko Sabo    Wang Yi    Jin Yu    Gerald Fowler    Walker Hale    Divya Kalra    Eric Green    Bartha maria Knoppers    Jan Korbel    Tobias Rausch    Sttz Adrian M.    Charles Lee    Griffin Lauren    Hsieh Chih-Heng    Ryan Mills    Marcin Von Grotthuss    Zhang Chengsheng    Xinghua Shi    Lehrach Hans    Ralf Sudbrak    Vyacheslav Amstislavskiy    Matthias Lienhard    Florian Mertes    Marc Sultan    Timmermann Bernd    Yaspo Marie-Laure    Herwig Sudbrak Ralf    Elaine Mardis    Wilson Richard K.    Lucinda Fulton    Robert Fulton    George Weinstock    Asif Chinwalla    Ding Li    David Dooling    Daniel Koboldt    Michael McLellan    John Wallis    Michael Wendl    Qunyuan Zhang    Gábor Marth    Erik Garrison    Deniz Kural    Wanping Lee    Leong Wen Fung    Alistair Ward    Jiantao Wu    Zhang Mengyao    Deborah Nickerson    Can Alkan    Fereydoun Hormozdiari    Arthur Ko    Peter Sudmant    Jeanette Schmidt    Davies Christopher J.    Jeremy Gollub    Teresa Webster    Wong Brant    Yiping Zhan    Stephen Sherry    Xiao Chunlin    Deanna Church    Ananiev Victor    Belaia Zinaida    Beloslyudtsev Dimitriy    Nathan Bouk    Chen Chao    Cohen Robert F.    Cook Charles    John Garner    Hefferon Timothy    Kimelman Mikhail    Liu Chunlei    John Lopez    Meric Peter    Ostapchuk Yuri    Phan Lon    Ponomarov Sergiy    Valerie Schneider    Shekhtman Eugene    Karl Sirotkin    Douglas Slotta    Zhang Hua    王俊    Xiaodong Fang    Xiaosen Guo    Min Jian    Jiang Hui    Jin Xin    Li Guoqing    Jingxiang Li    Yingrui Li    Xiao Liu    Yao Lu    Ma Xuedi    Shuaishuai Tai    Tang Meifang    Wang Bo    Guangbiao Wang    Wu Honglong    Renhua Wu    Ye Yin    Wenwei Zhang    Zhao Jiao    Zhao Meiru    Zheng Xiaole    Lachlan Hans    Fang Lin    Qibin Li    Zhenyu Li    Lin Haoxiang    Liu Binghang    Ruibang Luo    Shao Haojing    Wang Bingqiang    Yinlong Xie    Ye Chen    Chang Yu    Hancheng Zheng    Zhu Hongmei    Cai Hongyu    Hongzhi Cao    Yeyang Su    Tian Zhongming    杨焕明     Yang Ling    Zhu Jiayong    Cai Zhiming    Jian Wang    Marcus Albrecht    Tatiana Borodina    Adam Auton    Yoon Seungtai C.    Lihm Jayon    Makarov Vladimir    Jin Hanjun    Kim Wook    Kim Ki Cheol    Srikanth Gottipati    Jones Danielle    David Cooper    Edward Ball    Peter Stenson    Bret Barnes    Scott Kahn    Kai Ye    Batzer Mark A.    Miriam Konkel    Jerilyn Walker    Daniel MacArthur    Monkol Lek    Mark Shriver    Carlos Bustamante    Simon pierre Gravel    Kenny Eimear E.    Jeffrey Kidd    Phil Lacroute    Brian Maples    Andrés Moreno-Estrada    Fouad Zakharia    Brenna Henn    Karla Sandoval    Jake Byrnes    Eran Halperin    Yael Baran    David Craig    Alexis Christoforides    Tyler Izatt    Ahmet Kurdoglu    Shripad Sinari    Nils Homer    Kevin Squire    Jonathan Sebat    Vineet Bafna    Kenny Ye    Burchard Esteban G.    Ryan Hernandez    Gignoux Christopher    David Haussler    Sol Katzman    William james Kent    Bryan Howie    Andrés Ruíz-Linares    Emmanouil t Dermitzakis    Tuuli Lappalainen    Devine Scott E.    Liu Xinyue    Maroo Ankit    Luke Tallon    Jeffrey Rosenfeld    Michelson Leslie P.    Angius Andrea    Francesco Cucca    Serena Sanna    Abigail Bigham    Jones Chris G.    Reinier Frederic    Yun Li    Robert Lyons    Schlessinger David    Philip Awadalla    Alan Hodgkinson    Taras Oleksyk    Juan carlos Martínez-Cruzado    符云新    Xiaoming Liu    Xiong Momiao    Lynn Jorde    Witherspoon David J.    Jinchuan Xing    Brian Browning    Iman Hajirasouliha    Ken Chen    Cornelis Albers    Mark Gerstein    Alexej Abyzov    Jieming Chen    Yao Fu    Lukas Habegger    Arif ozgun Harmanci    Xinmengjasmine Mu    Cristina Sisu    Suganthi Balasubramanian    Mike Jin    Ekta Khurana    Declan Clarke    Jacob Michaelson    OSullivan Chris    Kathleen carole Barnes    Neda Gharani    Lorraine Toji    Gerry Norman P.    Jane Kaye    Alastair Kent    Rasika ann Mathias    Pilar Ossorio    Michael Parker    Charles Rotimi    Charmaine Royal    Sarah Tishkoff    Via Marc    Walter Bodmer    Bedoya Gabriel    Yang Gao    You Chu Jia    Garcia-Montero Andrés    Alberto Orfao    Dutil Julie    Lisa Brooks    Adam Felsenfeld    Jean McEwen    Clemm Nicholas C.    Mark Guyer    Jane Peterson    Audrey Duncanson    Dunn Michael    Leena johanna Peltonen   

    • 刊名:

      Nature Communications

    • 在线出版时间:

      2014

  • Multilayered molecular profiling supported the monoclonal origin of metastatic renal cell carcinoma

    • 摘要:

      Primary renal cell carcinomas (pRCCs) have a high degree of intratumoral heterogeneity and are composed of multiple distinct subclones. However, it remains largely unknown that whether metastatic renal cell carcinomas (mRCCs) also have startling intratumoral heterogeneity or whether development of mRCCs is due to early dissemination or late diagnosis. To decipher the evolution of mRCC, we analyzed the multilayered molecular profiles of pRCC, local invasion of the vena cava (IVC), and distant metastasis to the brain (MB) from the same patient using whole-genome sequencing, whole-exome sequencing, DNA methylome profiling, and transcriptome sequencing. We found that mRCC had a lower degree of heterogeneity than pRCC and was likely to result from recent clonal expansion of a rare, advantageous subclone. Consequently, some key pathways that are targeted by clinically available drugs showed distinct expression patterns between pRCC and mRCC. From the genetic distances between different tumor subclones, we estimated that the progeny subclone giving rise to distant metastasis took over half a decade to acquire the full potential of metastasis since the birth of the subclone that evolved into IVC. Our evidence supported that mRCC was monoclonal and distant metastasis occurred late during renal cancer progression. Thus, there was a broad window for early detection of circulating tumor cells and future targeted treatments for patients with mRCCs should rely on the molecular profiles of metastases. What's new? While much is known about the intratumoral heterogeneity of primary renal cell carcinomas, the clonal composition of metastatic tumors remains unclear. To explore whether metastatic renal cell carcinomas stem from early dissemination or late diagnosis, the authors characterized the genetic, epigenetic and transcriptional profiles of multiple metastatic tumors from the same patient. They show that the metastatic tumor itself has a low degree of intratumoral heterogeneity, but likely results from the recent clonal expansion of a rare, advantageous subclone arising late within the primary tumor. This study highlights the therapeutic potential of early detection and molecular profiling of metastatic kidney tumors. © 2013 UICC.

    • 作者:

      Yi Huang    Gao Shengjie    Song Wu    Song Pengfei    Xiaojuan Sun    Xueda Hu    Zhang Shiqiang    Yu Yuan    Zhu Jialou    Li Cailing    Qin Zi-Ke    Xie Liangfu    Yao Qiong    Aifa Tang    Zesong Li    Guangwu Guo    Wan Shengqing    Pei Dong    Sun Liang    Li Weiping    Daping Wang    桂耀庭    杨焕明     Zhou Fang-Jian    Xiuqing Zhang    Zhiming Cai   

    • 刊名:

      International Journal of Cancer

    • 在线出版时间:

      2014

  • E-Selectin-Genpolymorphismus (A561C) und essenzielle Hypertonie

    • 摘要:

      Background The A561C polymorphism of the E-selectin gene (SELE) has been reported to be associated with essential hypertension (EH) in several studies; however, results among these studies were inconsistent. Here, we conducted a meta-analysis to explore the association of the A561C polymorphism with EH. Methods Publications were retrieved through searching PubMed, Web of Science, the China National Knowledge Infrastructure (CNKI), China Biological Medicine, and the Wanfang database. Odds ratios (OR) and 95 % confidence intervals (CI) were calculated to estimate the strength of association of A561C with EH. Subgroup analysis was also performed to assess ethnic discrepancies. A total of seven studies comprising 2,127 EH patients and 2,078 controls were analyzed. Results In the dominant model analysis, we found significant associations between the A561C polymorphism and EH in all subjects (CC+AC vs. AA, OR = 1.96, 95 %CI 1.57-2.44, P = 0.381), in a Han Chinese subgroup (CC+AC vs. AA, OR = 2.38, 95 %CI 1.73-3.29, P = 0.269), and in non-Han Chinese minorities (CC+AC vs. AA, OR = 1.62, 95 %CI 1.19-2.21, P = 0.84). Conclusion The findings suggest that C allele carriers of the SELE gene polymorphism (A561C) might be predisposed to EH in the Chinese population. Further investigations in other ethnic populations should be conducted to verify these findings. © 2014 Urban & Vogel.

    • 作者:

      Ouyang    Wu    Aihua Tan    杨焕明     Gao    Li Hongfan    Lu    Hu Yanlin    Tang    Haiying Zhang   

    • 刊名:

      Herz

    • 在线出版时间:

      2014

  • Genetic basis of Y-linked hearing impairment

    • 摘要:

      A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype. © 2013 The American Society of Human Genetics.

    • 作者:

      Wang Qiu-Ju    Yali Xue    Yujun Zhang    龙泉    Fengtang Yang    Turner Daniel J.    Tomas Fitzgerald    Ng    Yali Zhao    Yuan Chen    Liu Qing-Jie    Yang    Han Dongyi    Michael Quail    Swerdlow Harold P.    John Burton    Fahey Ciara    Zemin Ning    Matthew Hurles    Nigel Carter    杨焕明     Chris Tyler-Smith   

    • 刊名:

      American Journal of Human Genetics

    • 在线出版时间:

      2013

  • Metagenome-wide analysis of antibiotic resistance genes in a large cohort of human gut microbiota

    • 摘要:

      The human gut microbiota is a reservoir of antibiotic resistance genes, but little is known about their diversity and richness within the gut. Here we analyse the antibiotic resistance genes of gut microbiota from 162 individuals. We identify a total of 1,093 antibiotic resistance genes and find that Chinese individuals harbour the highest number and abundance of antibiotic resistance genes, followed by Danish and Spanish individuals. Single-nucleotide polymorphism-based analysis indicates that antibiotic resistance genes from the two European populations are more closely related while the Chinese ones are clustered separately. We also confirm high abundance of tetracycline resistance genes with this large cohort study. Our study provides a broad view of antibiotic resistance genes in the human gut microbiota. © 2013 Macmillan Publishers Limited. All rights reserved.

    • 作者:

      Yongfei Hu    Xi Yang    Junjie Qin    Na Lu    Gong Cheng    Wu Na    Pan Yuanlong    Jing Li    Liying Zhu    Xin Wang    MENG Zhi-qi    赵方庆    刘翟    Ma Juncai    Nan Qin    Xiang Chunsheng    Yonghong Xiao    李兰娟    杨焕明     Jian Wang    Ruifu Yang    高福    Jun Wang    Baoli Zhu   

    • 刊名:

      Nature Communications

    • 在线出版时间:

      2013

  • Draft genome sequence of the mulberry tree Morus notabilis

    • 摘要:

      Human utilization of the mulberry-silkworm interaction started at least 5,000 years ago and greatly influenced world history through the Silk Road. Complementing the silkworm genome sequence, here we describe the genome of a mulberry species Morus notabilis. In the 330-Mb genome assembly, we identify 128 Mb of repetitive sequences and 29,338 genes, 60.8% of which are supported by transcriptome sequencing. Mulberry gene sequences appear to evolve ∼3 times faster than other Rosales, perhaps facilitating the species' spread worldwide. The mulberry tree is among a few eudicots but several Rosales that have not preserved genome duplications in more than 100 million years; however, a neopolyploid series found in the mulberry tree and several others suggest that new duplications may confer benefits. Five predicted mulberry miRNAs are found in the haemolymph and silk glands of the silkworm, suggesting interactions at molecular levels in the plant-herbivore relationship. The identification and analyses of mulberry genes involved in diversifying selection, resistance and protease inhibitor expressed in the laticifers will accelerate the improvement of mulberry plants.

    • 作者:

      Ningjia He    Zhang Chi    Qi Xiwu    Shancen Zhao    陶勇    Yang Guojun    Taeho Lee    Xiyin Wang    Qingle Cai    Dong Li    Mengzhu Lu    廖森泰    Luo Guoqing    He Rongjun    Tan Xu    Xu Yunmin    Tian Li    Zhao Aichun    Jia Ling    Fu Qiang    Zeng Qiwei    Gao Chuan    Ma Bi    Liang Jiubo    Wang Xiling    Shang Jingzhe    Song Penghua    Wu Hai-Yang    Fan Li    Wang Qing    Shuai Qin    Zhu Juanjuan    Wei Congjin    朱克岩    Jin Dianchuan    Wang Jinpeng    Liu Tao    Yu Maode    Tang Cuiming    Wang Zhenjiang    Dai Fanwei    Chen Jiafei    Liu Yan    Zhao Shutang    Tianbao Lin    张守攻    Junyi Wang    Jian Wang    杨焕明     Yang Guangwei    Andrew Paterson    Qingyou Xia    Dongfeng Ji    向仲怀   

    • 刊名:

      Nature Communications

    • 在线出版时间:

      2013

  • Genomic insights into salt adaptation in a desert poplar

    • 摘要:

      Despite the high economic and ecological importance of forests, our knowledge of the genomic evolution of trees under salt stress remains very limited. Here we report the genome sequence of the desert poplar, Populus euphratica, which exhibits high tolerance to salt stress. Its genome is very similar and collinear to that of the closely related mesophytic congener, P. trichocarpa. However, we find that several gene families likely to be involved in tolerance to salt stress contain significantly more gene copies within the P. euphratica lineage. Furthermore, genes showing evidence of positive selection are significantly enriched in functional categories related to salt stress. Some of these genes, and others within the same categories, are significantly upregulated under salt stress relative to their expression in another salt-sensitive poplar. Our results provide an important background for understanding tree adaptation to salt stress and facilitating the genetic improvement of cultivated poplars for saline soils. © 2013 Macmillan Publishers Limited. All rights reserved.

    • 作者:

      Wang Jun    Ma Tao    Junyi Wang    Zhou Gongke    Yue Zhen    Hu Quanjun    Chen Yan    Liu Bingbing    Qiang Qiu    王卓    Zhang Jian    Wang Kun    Jiang Dechun    Gou Caiyun    Yu Lili    Zhan Dongliang    Zhou Ran    Luo Wenchun    Hui Ma    Yang Yongzhi    Shengkai Pan    Fang Dongming    Yadan Luo    Wang Xia    Wang Gaini    Wang Juan    Wang Qian    Lu Xu    Chen Zhe    Liu Jinchao    Yao Lu    Ye Yin    杨焕明     Richard Abbott    Wu Yuxia    Wan Dongshi    Li Jia    Tongming Yin    Lascoux Martin    DiFazio Stephen P.    Gerald Tuskan    Jianquan Liu   

    • 刊名:

      Nature Communications

    • 在线出版时间:

      2013

  • Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

    • 摘要:

      Bladder cancer is one of the most common cancers worldwide, with transitional cell carcinoma (TCC) being the predominant form. Here we report a genomic analysis of TCC by both whole-genome and whole-exome sequencing of 99 individuals with TCC. Beyond confirming recurrent mutations in genes previously identified as being mutated in TCC, we identified additional altered genes and pathways that were implicated in TCC. Notably, we discovered frequent alterations in STAG2 and ESPL1, two genes involved in the sister chromatid cohesion and segregation (SCCS) process. Furthermore, we also detected a recurrent fusion involving FGFR3 and TACC3, another component of SCCS, by transcriptome sequencing of 42 DNA-sequenced tumors. Overall, 32 of the 99 tumors (32%) harbored genetic alterations in the SCCS process. Our analysis provides evidence that genetic alterations affecting the SCCS process may be involved in bladder tumorigenesis and identifies a new therapeutic possibility for bladder cancer.

    • 作者:

      Guangwu Guo    Xiaojuan Sun    陈超    Wu Song    Huang Peide    Zesong Li    Michael Dean    Yi Huang    Jia Wenlong    Zhou Quan    Aifa Tang    Yang Zuoquan    Xianxin Li    Song Pengfei    Xiaokun Zhao    Rui Ye    Zhang Shiqiang    Lin Zhao    Qi Mingfu    Wan Shengqing    Xie Liangfu    Fan Fan    Nickerson Michael L.    Zou Xiangjun    Xueda Hu    Xing Li    Lv Zhaojie    Mei Hongbin    Gao Shengjie    Chaozhao Liang    Zhibo Gao    Lu Jingxiao    Yu Yuan    Liu Chunxiao    Lin Li    Xiaodong Fang    Zhimao Jiang    Yang Jie    Li Cailing    赵鑫    Chen Jing    张芳    Lai Yongqi    Lin Zheguang    Zhou Fang-Jian    Chen Hao    Chan Hsiao Chang    Tsang Shirley    Dan Theodorescu    李英睿    Xiuqing Zhang    Jian Wang    杨焕明     桂耀庭    王俊    Zhiming Cai   

    • 刊名:

      Nature Genetics

    • 在线出版时间:

      2013

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