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[转载]Nature Genetics: 草鱼全基因组序列图谱绘制完成
alinatingting 2015-5-6 09:18
中国科学院水生生物研究所、中国科学院国家基因研究中心、中山大学等机构的研究人员,合作完成了草鱼( Ctenopharyngodon idellus )基因组序列草图的绘制,相关研究成果在2015年5月4日的《自然·遗传学》杂志上在线发表( The draft genome of the grass carp (Ctenopharyngodon idellus) provides genomic insight into its evolution and vegetarian diet adaptation )。 该研究采用鸟枪法测序策略,分别对一尾雌性和一尾雄性草鱼进行了全基因组测序,通过改良的de novo Phusion-meta 拼接,获得雌性(0.9GB)和雄性(1.07GB)草鱼基因组组装序列。雌性草鱼为人工减数分裂雌核发育个体,因其基因组杂合度显著降低,获得了高质量的组装序列;雄性草鱼为野生个体,基因组组装质量明显下降,但为雄性基因组特异片段的挖掘提供了基础数据。基于草鱼多个组织的转录组数据和斑马鱼同源基因信息,在雌性基因组中注释了27,263个蛋白编码基因,完成了其中17,456个基因在草鱼染色体上的定位。 与现有12种脊椎动物基因组的比较研究发现,草鱼与斑马鱼经历了相似的基因组演化历程,它们共享7,227个基因家族,草鱼基因组中免疫相关结构域基因家族发生了显著扩张,两者的分化时间大约距今4900万年-5400万年。共线性分析和FISH检测结果显示,草鱼的第24号染色体对应于斑马鱼的第10和第22号染色体,提示草鱼基因组在演化过程中发生了一次染色体融合。在草鱼雌性基因组和雄性基因组的比较研究中,发现了2.38Mb雄性特有序列,包括206个contig,这些特异性片段主要分布在草鱼的第24号染色体上。草鱼第24号染色体的物理长度最长,但遗传距离却最短,表明其在减数分裂过程中的重组交换率显著偏低。据此推测,草鱼24号染色体的融合可能与其性染色体的分化有关。 草鱼以典型的草食性特征而得名,它们如何从水草中汲取营养以支持其快速生长一直是研究者们关注的问题。该研究的基因注释结果表明,草鱼基因组中并不存在纤维素降解酶基因;比较转录组分析发现,草鱼在草食性转化过程中,肠道中昼夜节律相关基因的表达模式发生了重设,肝脏中甲羟戊酸通路和类固醇生物合成通路被激活。草鱼可能通过持续高强度的食物摄入,获取足够多的可利用营养以维持其快速生长。 草鱼是我国重要的淡水养殖鱼类,也是世界范围内最重要的淡水养殖品种之一,其产量约占全球淡水养殖总量的16%。我国淡水养殖品种绝大部分属鲤科鱼类,草鱼作为鲤科鱼类的代表性物种,其全基因组序列的解析,将为鱼类重要经济性状相关基因的发掘和养殖品种的遗传改良提供关键技术支撑,同时,也将为鱼类基因组演化、性别决定及分化机制等理论研究奠定重要基础。 The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights .pdf 转自 测序中国 。
个人分类: 动物基因组测序研究进展|1991 次阅读|0 个评论
文化统一场论
benlion 2014-11-26 15:45
(系统医学与绘画艺术) 一、宇宙(粒子)-生命(心身)-文明(政教商): 1)宗教(儒释道)-哲学(科学与人文)-工程(农工医管); 2)科学(数学与技术)-人文(文学与艺术); 3)知识(研究与传播)-机器(软件与硬件)等。 二、文明的分期: 1)轴心时代 - 犹太教与儒释道形成,2)地理发现 - 郑和下西洋到哥伦布大航海,3)启蒙运动与工业革命,4)联合国成立等。 科学发展 - 经验科学到实验、系统与人工科学等,工业发展 - 动力机、计算机发明到生物工业等。 -(企业管理学探微)-
个人分类: 北太平洋|1945 次阅读|0 个评论
谈家桢的博士导师--杜布赞斯基的名著--《遗传学与物种起源》
livingfossil 2014-8-13 00:17
谈家桢的博士导师--杜布赞斯基的名著 -- 《遗传学与物种起源》 (第3版) Theodosius Grygorovych Dobzhansky(1900—1975,中文名通常 译为 “杜布 赞 斯基”)是 20世 纪 著名的 遗传 学家和 进 化生物学者。杜布 赞 斯基 1900年生于 乌 克 兰 , 1917年开始在 乌 克 兰 基 辅 大学 (University of Kiev)求学,一直到1924年。然后,他到俄 罗 斯圣·彼得堡跟随昆虫学家 Yuri Filipchenko (1882--1930) 。Yuri Filipchenko是Th. G. Dobzhansky的学 业导师 。 受洛克菲勒基金会的一个 项 目 资 助, Th. G. Dobzhansky于1927年来到美国 纽约 ,到哥 伦 比 亚 大学跟随著名 遗传 学家 Thomas Hunt Morgan( 摩尔根, 1866--1945)从事果 蝇 的 遗传 学研究。 1930—1940年Th. G. Dobzhansky又跟随Thomas Hunt Morgan 在加州理工学院继续 从事果 蝇 的 遗传 学研究。 在这个期间, Th. G. Dobzhansky指 导 了来自中国的学生 -- 谈 家 桢 ( 190 9 - 2008) 的博士论文研究。 1940年, Th.G. Dobzhansky 重返 哥 伦 比 亚 大学 独立开展他的科学研究。 1943年,Th. G. Dobzhansky ( 杜布 赞 斯基 ) 当 选为 美国科学院院士; 1965年4月8日当 选为 英国皇家学会外籍会 员 (院士)。 一、关于 Genetics and the Origin of Species (《 遗传 学和物种起源》) 自 1894年以来,围绕进化论这一重大主题哥伦比亚大学出版社(Columbia University Press,New York)陆续出版了一批富有长远影响的“哥大生物学系列丛书”(Columbia Biological Series)。我不清楚,科学史领域是否有人专门研究这个系列丛书的出版过程。今天,我主要向大家介绍这个系列丛书的第11部著作,即 杜布赞斯基的名著 -- Genetics and the Origin of Species (《 遗传 学和物种起源》)。 1937年出版的 Genetics and the Origin of Species 的基本信息: Autho r: Dobzhansky, Theodosius, 1900-1975. Title: Genetics and the origin of species,by Theodosius Dobzhansky Published: New York, Columbia University Press, 1937. Description: xvi, 364 p. illus., diagrs. 24 cm. Series: Columbia biological series ; no. 11. Subjects: Evolution(Biology) Notes: This book is based on a series of lectures delivered at Columbia University ... in October, 1936.--Pref.Literature: p. -352. Language: English Bookmark As: http://clio.columbia.edu/catalog/3990956 http://clio.columbia.edu/catalog/3990956?counter=5 Th.G. Dobzhansky 于 1941 年和 1951 年分别出版了 Genetics and the Origin of Species (《 遗传 学和物种起源》)的第 2版和第3版。本文主要介绍第3版。 Theodosius Dobzhansky, 1951 (Third edition and revised) Genetics and the Origin of Species . Columbia University Press, New York and London. I to Xii; pp.1 to 364 二、关于 谈 家 桢 ( 190 9 - 2008) 工作的引用 谈 家 桢于 1980年当选为中国科学院院士,于1985年当选为美国科学院外籍院士。 Th.G. Dobzhansky 在 Genetics and the Origin of Species (《 遗传 学和物种起源》)第 3版引 用了 谈 家 桢 ( 190 9 - 2008) 的一些工作,如: Tan, C.C.,1935. Salivary gland chromosomes in the two races of Drosophila pseudoobscura . Genetics., 20:392-402 Tan, C.C.,1946a. Mosaic dominance in the inheritance of color patterns in the ladybird beetle Harmonia axyridis . Genetics., 31:195-210. Tan, C.C.,1946b. Genetics of sexual isolation between Drosophila pseudoobscura and Drosophila persimilis . Genetics., 31:558-573. Sturtevant,A.H., and C.C. Tan, 1937. The comparative genetics of Drosophila pseudoobscura and Drosophila melanogaster . Journal of Genetics.,34:415-432 Dobzhansky,Th., and C.C.Tan, 1936. Studies on hybrid sterility. III. A comparison of the gene arrangement in two species, Drosophila pseudoobscura and Drosophila miranda . Zeitschrift f ü r inductive Abstammungs-und Vererbungslehre, 72:88-114 (孙启高 2014年8月12 日整理) 三、第 3版 Genetics and the Origin of Species (《 遗传 学和物种起源》) 1 2 3 4 5 6 Chapter I Organic Diversity Diversity and adaptedness Discontinuity Adaptive peaks Evolution Genetics and evolution Genetics of populations Evolutionary statics and evolutionary dynamics Chapter II Heredity and self-reproduction The norm of reaction Phenocopies Definition of mutation Classification of mutations Types of changes produced by mutations Extent of changes produced by mutations Manifold effects Position effects Induction of mutations by radiation Mutation and temperature Chemical mutagens The quest of directed mutation Chapter III Mutation in Populations Premises Mutation and the genetic equilibrium Mutation rates Genetic control of the mutability Mutants in wild populations Potential genetic variability in Drosophila population Potential genetic variability in organisms other than Drosophila Polygenes Conclusions Chapter IV Selection Historical The concept of adaptive value Selection coefficients Interaction of selection and mutation Environmental modification of the adaptive values Mutation and selection in microorganisms Laboratory experiments on natural selection in Drosophila Historical changes in the composition of animal populations Historical changes in plant populations Correlated response to selection Protective and warning colorations and resemblances Origin of dominance and the stabilizing selection Chapter V Adaptive Polymorphism Types and populations Gause’s principle Chromosomal polymorphism in Drosophila Behavior of inversions in experimental populations of Drosophila Theory of balanced polymorphism Biological functions of the chromosomal polymorphism in Drosophila Balanced polymorphism and heterosis Chromosomal polymorphism in organisms other than Drosophila Genicpolymorphism Polymorphism and mimicry Adaptive polymorphism and ecological opportunity Chapter VI Race Formation Genetics and geography Chromosomal races in Drosophila pseudoobscura Race differences and race limits Racial variation due to single genes Polygenic racial variability Experiments on adaptedness of races in plants Experimentalstudies on adaptedness of animal races Regularities in geographic variation The problem of adaptively neutral traits Scattering of the variability The biological meaning of the value N Ecological variables and population size Microgeographic races Genetic conception of race Chapter VII Isolating Mechanisms Premises Geographic and reproductive isolation Ecological and seasonal isolation Sexual isolation Mechanical isolation Fertilization in species crosses Hybrid inviability Hybrid breakdown Genetic analysis of isolating mechanisms The multiple gene hypothesis of the origin of reproductive isolating mechanisms Allopatric and sympatric species formations Reproductive isolation and natural selection Chapter VIII Hybrid Sterility Historical Genicand chromosomal sterility Genic sterility within species Intersexuality in hybrids Genic sterility in the hybrids of Drosphila pseudoobscura X D . persimilis The “strong” and “weak” races of Drosophila pseudoobscura and D . persimilis Genic sterility in the hybrids of Drosphila virilis X D . americana Maternal and cytoplasmic effects in hybrids Intraspecific chromosomal sterility Translocations and inversions in species hybrids Gene arrangements in Drosophila species hybrids Comparison of gene arrangement in species of Drosophila which can not be hybridized Chromosomal sterility in species hybrids Chromosomal sterility in hybrids between polyploidy species Chapter IX Species as Natural Units The genetic basis of classification The natural system Mendelian populations as products of adaptive evolution Definition of species in sexually reproducing organisms Biological species and taxonomic species Species,incipient species and races Sibling species Borderline cases between races and species Ecospecies and cenospecies “ Species” in asexual organisms Chapter X Patterns of Evolution Introduction The types of evolutionary changes The balance of evolutionary forces Rates of Evolution Rudimentation Parasitism and mutualism Polyploidyas a method of the origin of species Re-creation of natural polyploidy species of plants Polyploidy in animals and in dioecious plants Mutation in polyploids and the origin of new genes Introgressive hybridization Retrogression of sexuality Biological and cultural variables of human evolution ============================= 《物种起源 》及相关工作编目 1. 中国 馆藏 1859年第1版《物种起源》之发现 http://blog.sciencenet.cn/blog-225931-816503.html 2014-8-123:23 2 . 《物种起源 》 (中文版):没有最好,只有更好(之一) http://blog.sciencenet.cn/blog-225931-816525.html 2014-8-203:44 重新 发现达尔文与《物种起源》 —— 新 译本《物种起源》出版沙龙速记( 苗德岁翻译) http://site.douban.com/yilin/widget/notes/6783442/note/326741253/ 苗德岁翻译《物种起源 》 http://www.uua.cn/show-76-1070-1.html 《物种起源》,〔英达 尔文著,苗德 岁译,译林出版社 2013 年 10 月第一版 --------------- 3. 哈佛大学科学史教授Janet Browne(1950--)和达尔文传记研究 http://blog.sciencenet.cn/blog-225931-816531.html 2014-8-205:12 ---------- 4 . 《物种起源 》 (中文版):没有最好,只有更好(之二) 著名翻译家叶 笃庄( 1914--2000)谈他的 《物种起源》 中 译本 http://blog.sciencenet.cn/blog-225931-817388.html 2014-8-6 01:35 5 . 达尔文与古植物学中的“讨厌之谜” —并非出自《物种起源》 http://blog.sciencenet.cn/blog-225931-817660.html 2014-8-7 01:11 6. 达尔文和《物种起源》:生命之树(Tree of Life)(之一) http://blog.sciencenet.cn/blog-225931-817959.html 2014-8-7 23:39 7. 达尔文和《物种起源》:生命之树(Tree of Life)(之二) http://blog.sciencenet.cn/blog-225931-817985.html 2014-8-8 05:15 8.Theodosius Grygorovych Dobzhansky(杜布 赞斯基 , 1900 - 1975) 的名著 -- Genetics and the Origin of Species (《 遗传 学和物种起源》) 1943年,杜布 赞 斯基当 选为 美国科学院院士; 1965年4月8日当 选为 英国皇家学会外籍会 员 (院士)。 http://en.wikipedia.org/wiki/Theodosius_Dobzhansky Genetics and the Origin of Species (《 遗传 学和物种起源》 http://blog.sciencenet.cn/blog-225931-819102.html (2014-8-13 00:17) 9 . Theodosius Grygorovych Dobzhansky(杜布 赞斯基 , 1900 - 1975) 的著名演讲和名言 ---- “ Nothing in biology makes sense except in the light of evolution” http://blog.sciencenet.cn/blog-225931-818193.html 2014-8-9 00:15 10 . Mayr, E.( 1940)发表 Systematics and the Origin of Species (《系统学与物种起源》) http://en.wikipedia.org/wiki/Ernst_Mayr Ernst Mayr(1904--2005) 于 1954 年当选为美国科学院院士。 11. George Ledyard Stebbins,Jr. (1906 -- 2000) 1950年发表 Variation and Evolution in Plants (《植物的变异与进化》) http://en.wikipedia.org/wiki/G._Ledyard_Stebbins George Ledyard Stebbins1952年当选为美国科学院院士。 12 . Stephen Jay Gould (1941--2002)的名著 The Structure of Evolutionary Theory ; http://blog.sciencenet.cn/blog-225931-808304.html 2014-7-2 03:59 Stephen Jay Gould (1941--2002)于1989年当选为美国科学院院士 http://en.wikipedia.org/wiki/Stephen_Jay_Gould 13 . 《物种起源 》 (中文版):没有最好,只有更好(之三) 14 . 《物种起源 》 (中文版):没有最好,只有更好(之四)
个人分类: 古植物学的故事-Story of Palaeobotany Ser ...|4073 次阅读|0 个评论
啊, Homo sapiens
热度 1 chenkev 2012-12-30 10:11
啊 , Homo sapiens 你 脑纹里可有幼年的印迹 ? 那代代相 传的神话 : 总有那一个潭 , 博大精深 … 亿万年的湖怪在修炼 , 他正是 Homo sapiens 的前生 … 今世 , 他己成精 , 他己上岸 , 他己甩掉了身上的甲泥 … 他早己 废弃了昔日的双鳃 , 他吮吸着大地的精气 … 啊 , Homo sapiens, 你仍不能主宰自己的命运, 浑浑噩噩 , 徘徊在非洲的 旷野山涧。 我却信, 你仍喜 欢那峻岭深潭 , 因 为那是你拥有的恒古遗传。 我懂了, 当我 们要修炼要闭关, 我 们仍向往深山松泉。 你不甘寂寞, 要 领略外面世界的大千, 混入物 竞天择的洪流, 你目 标茫然。 出非洲 , 难道是你没有生存的空间 ? 髙智商的突 变 , 你 远远地抛开了进化链上的同伴。 几十万年的瞬 间 , 大地始起了硝烟 , 你无情地破坏着地球植被 , 追 虏着远古弱智的伙伴。 尽管他 们身有碱基千百万 , 反抗和呻吟也是枉然。 巨象 庞大的 身躯 , 猛 兽骇人的咆哮 , 也阻不断你征伐的傲慢。 跨 过滔滔的红海 , 追逐到未来巴比 伦的空中花园 , 昔的尼安特 鲁伙伴 , 也消失在那无 边的沃野山涧。 不断重复的 杀戮 , 可以定格在 进化的每一个瞬间。 打开你 DNA 的印迹吧 , Y 染色体或炫燿昔日征服的 辉煌 线粒体却哭泣着那血泪的辛酸。 征服了 旷古近化的远亲 , 硝烟也燃到近 邻的身边。 我 们咒骂着外族的凶残 , 也从 间断的蹂躏自己的同伴 , 髙智的衍化使 疯狂更具风险。 瞧 , 我 们又有了原子弹 , 宇宙 飞船也升上天。 据信碱基 对还在加速突变 , 膨 胀的信心可否有际边 ? 难道不能有太多的责谴 ? 我 们的 DNA, 虽含博大精深的友善 , 但骨髓里却 隐藏着, 自私、狡 诈、和贪婪。 我 们调控野性的冲动 , 但也期盼着理性的空 间。 我期盼 , 对 DNA 的 监管 : 尽量多用核酸 ChiP 晶片 , 结合上尖端 PET 脑 scan 。 给予表遗传学更大的权限。 熄 灭吧, 你燥 动基因的突变 , 沉黙吧, 你操蛋 ( 白 质 ) 的 强 显。 我知道野性的躁狂不是你的本意 , 你也因 为能量低态而详安。 分亨吧, 自由的空气 , 仿如那 远古出海的精仙。 给予吧, 应本无界的地球 , 现己千疮不堪。 赋予吧 , 所有生命 , 属于它 应有的空间。 不 让我 , 看到 伪装文明薄膜下, 更多 动物的本能。 We have enough! 愿 见证 , 更多人性的光 辉。 Homo sapiens , 这是我们的前生今世 , 一个漫 长的结果 , 却又那么瞬 变。 加油吧 ! 为那并不遥远的神话 , 贴上未来人类的标签 。
1302 次阅读|2 个评论
[转载]《Nature Genetics》2012外显子测序8篇文章中文摘要
genesquared 2012-12-5 13:56
《Nature Genetics》2012.09-NMNAT1突变引发先天性黑蒙症并为视网膜退化确定了一个新的疾病途径 2012/10/17 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 来自美国休斯敦贝勒医学院的陈瑞及其团队发现先天性黑蒙症的一个新的致病因素—— NMNAT1 基因突变。研究者进一步证明被检查的所有 NMNAT1 突变患者有斑点虹膜缺损,这标志着中央视网膜的严重退化。相关的研究论文于7月29日在线发表在《Nature Genetics》期刊上。 -2012年9月《自然-遗传》 阅读全文 》 标签: nature-genetics , Nature-Genetics-2012-09 , NMNAT1 基因突变 , 先天性黑蒙症 , 外显子组测序 , 视网膜疾病 《Nature Genetics》2012.09- ATP1A3基因突变引发儿童交替性偏瘫 2012/10/17 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 来自美国杜克大学医学院的David Goldstein,Mohamad Mikati及其同事报道了儿童交替性偏瘫中ATP1A3基因突变的鉴定。这种病是一种罕见的神经综合征,表现为经常性偏瘫发作和独特的神经临床表现。相关的研究论文于7月29日在线发表在《Nature Genetics》期刊上。 -2012年9月《自然-遗传》 阅读全文 》 标签: ATP1A3非同义突变 , nature-genetics , Nature-Genetics-2012-09 , 儿童交替性偏瘫 , 外显子组测序 , 疾病的病理生理机制 《Nature Genetics》2012.08-FAN1突变通过有缺陷的DNA损伤修复导致慢性肾衰竭进而引发巨核间质肾病 2012/09/06 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 来自密西根大学的Friedhelm Hildebrandt, 洛克菲勒大学的Agata Smogorzewska及其团队证明DNA修复基因 FAN1 的突变可以引发巨核间质肾病。这些发现表明,在肾纤维化的病理生理学中有缺陷的DNA损伤应答会产生信号。相关的研究论文于7月8日在线发表在《Nature Genetics》期刊上。 -2012年8月《自然-遗传》 阅读全文 》 标签: DNA损伤应答 , FAN1基因 , nature-genetics , Nature-Genetics-2012-08 , 丝裂霉素C , 外显子组测序 , 巨核间质肾病 , 慢性肾脏病 , 肾纤维化 《Nature Genetics》2012.08-极端表型的外显子组测序鉴定DCTN4是囊性纤维化中慢性绿脓杆菌感染症的调节基因 2012/09/06 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 来自美国华盛顿大学的Michael Bamshad及其同事报道了一种极端表型外显子组测序研究,该研究可以鉴定调节囊包性纤维症患者中慢性绿脓杆菌在空气感染风险的遗传变异。相关的研究论文于7月8日在线发表在《Nature Genetics》期刊上。 -2012年8月《自然-遗传》 阅读全文 》 标签: DCTN4基因 , nature-genetics , Nature-Genetics-2012-08 , 外显子组测序 , 慢性绿脓杆菌 , 极端表型 《Nature Genetics》2012.06-与肝吸虫有关的胆管瘤外显子组测序结果 2012/06/15 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 来自新加坡国立癌症中心的Bin Tean Teh及其同事报道了与泰国肝吸虫( Opisthorchis viverrini )有关的胆管瘤(CCA)——一种与肝吸虫感染有关的致命胆管瘤的外显子组测序结果。 -2012年6月《Nature Genetics》 中文翻译 【题目】 与肝吸虫有关的胆管瘤外显子组测序结果 【译文】 与泰国肝吸虫( Opisthorchis viverrini )有关的胆管瘤(CCA)——一种致命的胆管癌,是这种寄生虫寄生地区公共卫生的主要关注点。 阅读全文 》 标签: nature-genetics , Nature-Genetics-2012-05-06 , 外显子组测序 , 泰国肝吸虫 , 胆管瘤 《Nature Genetics》2012.06-外显子组鉴定前列腺癌中周期性发生的SPOP、FOXA1和MED12突变 2012/06/15 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 近日,来自隶属美国哈佛大学和麻省理工学院的博德研究院的Levi Garraway及其同事报道了112例前列腺腺癌和相对应正常组织的外显子组测序结果。他们在一些基因中新鉴定到周期性突变的基因—— MED12 , FOXA1 和 SPOP 。他们还发现 SPOP 基因突变的肿瘤缺乏 TMPRSS2 - ERG 融合或其他ETS基因重排现象,他们认为这些发现证实这一假设: SPOP 突变体是前列腺肿瘤发生的早期诱导因素。 -2012年6月《Nature Genetics》 中文翻译 【题目】 外显子组鉴定前列腺癌中周期性发生的 SPOP 、 FOXA1 和 MED12 突变 【译文】 前列腺癌是全世界第二种男性中最常见的癌症,它造成的死亡数每年超过25万人。 阅读全文 》 标签: nature-genetics , Nature-Genetics-2012-05-20 , 前些腺癌 , 周期性突变 , 外显子组测序 , 常见变异 《Nature Genetics》2012.05-UVSSA突变造成UV敏感综合征并且损害转录藕联核苷酸切除修复中的RNA聚合酶IIo的加工作用 2012/05/30 | 归类于: 《自然·遗传学》- Nature Genetics | 作者: 生物分子 近日,来自长崎大学基因组不稳定和致癌机理研究中心的Tomoo Ogi及其同事报道了 UVSSA 的突变造成了1/3互补群患紫外线敏感综合征(UV S S)。 UVSSA 的缺陷导致了转录藕联的核苷酸切除修复缺陷及难以在DNA损伤位置处解决RNA聚合酶IIo的失速问题。 -2012年5月《自然遗传》 中文翻译 【题目】 UVSSA 突变造成UV敏感综合征并且损害转录藕联核苷酸切除修复中的RNA聚合酶IIo的加工作用 【译文】 紫外线敏感综合征(UV S S)是一类慢性皮肤病,特点表现为不致皮肤癌的皮肤光敏感性。 阅读全文 》 标签: nature-genetics , Nature-Genetics-2012-05 , RNA聚合酶IIo , 外显子组测序 , 慢性皮肤病 , 紫外线敏感综合征 , 转录藕联的核苷酸切除修复 《Nature Genetics》2012.05-胃腺癌的外显子组测序鉴定了细胞粘着和染色质重塑基因周期性的体细胞突变 2012/05/30 | 归类于: 《自然·遗传学》- Nature Genetics , 其他 | 作者: 生物分子 近日,来自新加坡研究生医学院杜克-国立大学的Patrick Tan, Bin Tean Teh, Steve Rozen及其同事报道了胃腺癌中细胞粘着基因 FAT4 和染色质重塑基因 ARID1A 的体细胞突变。研究人员的发现表明了 FAT4 可能作为一种肿瘤抑制子来维持合适的细胞粘着和防止恶性肿瘤细胞迁移。 -2012年5月《自然遗传》 中文翻译 【题目】 胃腺癌的外显子组测序鉴定了细胞粘着和染色质重塑基因周期性的体细胞突变 【译文】 胃癌是全球性癌症死亡率的罪魁祸首。通过对15个胃腺癌样本以及对照DNA的外显子组测序,我们获取了胃癌的体细胞突变谱。 阅读全文 》 标签: nature-genetics , Nature-Genetics-2012-05 , 体细胞突变 , 外显子组测序 , 染色质重塑基因 , 细胞粘着 , 胃腺癌
个人分类: Exome|1953 次阅读|0 个评论
有感于Genetics 发展史
iamahappyann 2011-5-10 11:54
上个世纪从50年代DNA双螺旋结构的发现,到70年代甚至到80年代,是Genetics的发展史上的繁荣时期,有点百花齐放的感觉. 那种光芒甚至掩盖了今天大规模数据量带给人们的惊喜, 可是远远没有阶段性颠覆性的理论学说出现, 所有人无一例外的在解释分析问题要用到40年前的理论和假说.
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The profile of Daniel L. Hartl
iamahappyann 2011-3-30 15:52
The profile of Daniel L. Hartl is attached. He is one of the authors of "Principles of population genetics", in my opinion which is a classic textbook for population genetics students. _Profile of Daniel L. Hartl.2007May.PNAS.pdf
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[转载]Top 7 genetics papers
xupeiyang 2010-11-3 07:36
http://www.the-scientist.com/news/display/57794/ A snapshot of the highest-ranked articles in genetics and related areas in the past 30 days 1. Mapping transcriptomes While mapping every transcriptional start site and operon of Helicobacter pylori at single-nucleotide resolution, the authors identify novel small RNAs, reveal the widespread nature of antisense transcription, and unveil a new technique to investigate the genomic complexities of other important pathogens, such as Salmonella and Mycobacterium tuberculosis. CM Sharma et al, Nature, 464:250-5, 2010. Evaluated by N. Ahmed, Institute of Life Sciences, India; M. Hensel, Friedrich-Alexander University Erlangen-Nuremberg (FAU); S. Ho Sui and F. Brinkman, Simon Fraser University; S. Vogt and T. Raivio, University of Alberta; A. Danielli and V. Scarlato, University of Bologna. Free F1000 Evaluation DNA Image: Wikimedia commons, Zephyris 2. Epigenetics in mind The body's tendency to silence the expression of one parental allele in favor of the other -- a phenomenon known as genomic imprinting -- is much more widespread in the brain than scientists have believed, according to a new genome-wide study in mice. Surprisingly, more than 1300 genes expressed in the mouse brain appear to exhibit parent-of-origin epigenetic effects. C. Gregg, et al., Science, 329:643-8, 2010. Evaluations by R. Sapolsky, Stanford University; ME Carter and L. de Lecea, Stanford University; J. Messing, Rutgers University; Y Ikeuchi and A Bonni, Harvard Medical School; D Sweatt, University of Alabama at Birmingham. Free F1000 Evaluation 3. Translation goes local Protein synthesis is a complicated game, but for the first time researchers have shown direct interaction between a transmembrane receptor, called DCC, and the translational machinery in rodent neurons, a step that likely facilitates localized protein production. J. Tcherkezian, et al., Cell, 141:632-44, 2010. Evaluations by K Kwan and CB Chien, University of Utah; J Heraud and M Kiebler, Center for Brain Research, Medical University of Vienna, Austria; W Kroeze and B Roth, University of North Carolina; L Desgroseillers, University of Montreal, Canada; L Columbus, University of Virginia. Free F1000 Evaluation 4. No RNA dark matter? Most of the DNA that's transcribed into RNA in fact codes for proteins, a finding that disputes previous studies that suggested that the majority of mammalian transcripts are non-coding dark matter. H. van Bakel et al. PLoS Biol, May; 8(5):e1000371, 2010. A Siepel, Cornell University; S Macdonald, University of Kansas; A Sellam and A Nantel, National Research Council of Canada; D Reines, Emory University School of Medicine. Free F1000 Evaluation 5. Super E. Coli The mother cell of E. coli maintains a constant growth rate throughout its replicative life (hundreds of cell divisions), despite accumulating damage and an increased probability of death, suggesting that growth and aging are decoupled, unlike all other studied aging models. P. Wang et al., Curr Biol, 2010 May 26, 20:1099?1103. Evaluated by R Kishony, Harvard University; T Meier, Max Planck Inst Biophysics; Yves Barral, ETH. Free F1000 Evaluation 6. How autophagosomes form Under conditions of starvation, autophagosomes form to resupply the cell by bringing nutrients from the cytosol or other organelles to the lysosomes, ensuring the cell's survival. New findings reveal an essential ingredient to this mysterious process: the outer membrane of mitochondria. DW Hailey et al. Cell, 141:656-67, 2010. Evaluated by R Gross, University of Wuerzburg, Germany; M Markaki and N Tavernarakis, Foundation for Research and Technology-Hellas, Greece; Y Xiang and Y Wang, University of Michigan, E Lau and Z Ronai, The Burnham Institute. Free F1000 evaluation 7. New tumor targets? A scan of 1800 megabases of DNA from 441 tumors reveals more than 2500 somatic mutations, providing the mutation spectra for cancers, including protein kinases and G-protein-coupled receptors, some of which may serve as druggable targets. Z. Kan et al, Nature, 466:869-73, 2010. Evaluated by T Ried, National Cancer Institute; D Nierlich, University of California, Los Angeles; S Gutkind, National Institute of Dental and Craniofacial Research. Free F1000 evaluation The F1000 Top 7 is a snapshot of the highest ranked articles from a 30-day period on Faculty of 1000 Genomics Genetics, as calculated on October 28, 2010. Faculty Members evaluate and rate the most important papers in their field. To see the latest rankings, search the database, and read daily evaluations, visit http://f1000.com. Related stories: Top 7 hidden jewels Top 7 papers in biochemistry Top 7 papers in neuroscience Read more: Top 7 genetics papers - The Scientist - Magazine of the Life Sciences http://www.the-scientist.com/news/display/57794/#ixzz14AgI6xh0
个人分类: 科学杂志|1655 次阅读|0 个评论
[转载]Nature Genetics Contents: November 2010 pp 915 - 1030
xupeiyang 2010-10-28 07:04
NATURE GENETICS November 2010 Volume 42 Number 11, pp 915 - 1030 Visit Nature Genetics online to browse the journal. Now available at http://links.ealert.nature.com/ctt?kn=32m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Please note that you need to be a subscriber to enjoy full text access to Nature Genetics online. To purchase a subscription, please visit: http://links.ealert.nature.com/ctt?kn=72m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Alternatively, to recommend a subscription to your library, please visit http://links.ealert.nature.com/ctt?kn=49m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 =========================== ADVERTISEMENT =========================== Retool your cell-based RT-qPCR studies for high productivity. Use the NEW RealTime ready Cell Lysis Kit with Roche's proven RealTime ready Assay Panels. Obtain gene profiling results from cultured cells in as few as 75 minutes with the LightCycler? 480 System! http://links.ealert.nature.com/ctt?kn=123m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 http://links.ealert.nature.com/ctt?kn=104m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== GRANT - Staying on the cutting edge is all about collaboration. That's why Expression Analysis Illumina have combined forces to help fuel your research-FULLY-FUNDED GWA Study and data analysis at no cost to you. Apply on-line today or call 919-405-2248 * 866-293-6094. http://links.ealert.nature.com/ctt?kn=33m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== The Natureevents Directory 2011 Inform a potential 1 million scientists about your scientific events. Contact us now to be included in the 12th edition of the Natureevents directory: c.paulsen@us.nature.com T: +1 202 626 2522 http://links.ealert.nature.com/ctt?kn=131m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== Joint Focus from Nature Biotechnology and The Pharmacogenomics The MicroArray Quality Control II papers Building on its original work assessing the technical performance of DNA microarray technology, the MicroArray Quality Control (MAQC) consortium, a partnership between industry, academic and US government researchers, has set out to investigate the capabilities and limitations of microarray data analysis with respect to disease prediction. Read the Focus online for FREE until February 28, 2011: http://links.ealert.nature.com/ctt?kn=35m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Produced with support from: Affymetrix http://links.ealert.nature.com/ctt?kn=27m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== Nature Reviews Turns Ten Timely Content, Leading Authors, Enhanced Experience Access selected free content from Nature Reviews Genetics, Nature Reviews Molecular Cell Biology and Nature Reviews Neuroscience to celebrate the 10th anniversary of the Nature Reviews journals. http://links.ealert.nature.com/ctt?kn=114m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ===================================================================== ---------------------- EDITORIAL ---------------------- Discussing standards p915 doi:10.1038/ng1110-915 Whereas plans for data generation and public release can be agreed upon between data producers and their funders, community standards for the reporting, analysis and publication of high throughput data require wider discussion and broad consensus. http://links.ealert.nature.com/ctt?kn=74m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ---------------------- CORRESPONDENCE ---------------------- The Archon Genomics X PRIZE for whole human genome sequencing pp917 - 918 Larry Kedes and Edison T Liu doi:10.1038/ng1110-917 http://links.ealert.nature.com/ctt?kn=71m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 No evidence for lateral gene transfer between salmonids and schistosomes pp918 - 919 Christoph Grunau and Jarome Boissier doi:10.1038/ng1110-918 http://links.ealert.nature.com/ctt?kn=79m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Marker papers and data citation p919 Jane Peterson and Joseph Campbell doi:10.1038/ng1110-919 http://links.ealert.nature.com/ctt?kn=75m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Lack of evidence for DNA methylation of Invader4 retroelements in Drosophila and implications for Dnmt2-mediated epigenetic regulation pp920 - 921 Matthias Schaefer and Frank Lyko doi:10.1038/ng1110-920 http://links.ealert.nature.com/ctt?kn=86m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Reply to Lack of evidence for DNA methylation of Invader4 retroelements in Drosophila and implications for Dnmt2-mediated epigenetic regulation p921 Sameer Phalke, Olaf Nickel and Gunter Reuter doi:10.1038/ng1110-921 http://links.ealert.nature.com/ctt?kn=91m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ---------------------- NEWS AND VIEWS ---------------------- A common mechanism for microcephaly pp923 - 924 Bernd Wollnik doi:10.1038/ng1110-923 New studies employing high-throughput parallel sequencing have revealed WDR62 mutations in individuals with microcephaly associated with a broad range of malformations of cortical development. These findings establish that WDR62 acts as a molecular link between proliferation and migration in neurogenesis. http://links.ealert.nature.com/ctt?kn=89m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Glutamate receptors and learning and memory pp925 - 926 Jozef Gecz doi:10.1038/ng1110-925 Glutamate receptors have long been implicated in neurological processes underpinning learning and memory. A new study now shows that mutations in genes encoding glutamate receptor subunits can cause variable neurodevelopmental phenotypes including intellectual disability and epilepsy. http://links.ealert.nature.com/ctt?kn=83m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Genome-wide association studies coming of age in rice pp926 - 927 Richard M Clark doi:10.1038/ng1110-926 A new study reports the next-generation sequencing of 517 rice genomes, each to approximately onefold coverage. By leveraging sequence information across rice lines and by imputing missing genotypes, a haplotype map (HapMap) was constructed and used for genome-wide association studies in this major crop. http://links.ealert.nature.com/ctt?kn=68m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ---------------------- RESEARCH HIGHLIGHTS ---------------------- Research highlights p929 doi:10.1038/ng1110-929 http://links.ealert.nature.com/ctt?kn=109m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ---------------------- ARTICLES ---------------------- Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing pp931 - 936 Akihiro Fujimoto et al. doi:10.1038/ng.691 Tatsuhiko Tsunoda and Hidewaki Nakagawa report the genome sequence of a Japanese male individual generated with high-throughput sequencing technology. Their analyses reveal a number of novel single nucleotide variants, insertions, deletions and other variants. Abstract: http://links.ealert.nature.com/ctt?kn=30m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=102m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index pp937 - 948 Elizabeth K Speliotes et al. doi:10.1038/ng.686 Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of energy balance. Abstract: http://links.ealert.nature.com/ctt?kn=23m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=106m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution pp949 - 960 Iris M Heid et al. doi:10.1038/ng.685 Cecilia Lindgren and colleagues report results of a large-scale genome-wide association study for waist-to-hip ratio, a measure of body fat distribution. They identify 13 new loci associated with this trait, several of which show stronger effects in women than in men. Abstract: http://links.ealert.nature.com/ctt?kn=24m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=95m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Genome-wide association studies of 14 agronomic traits in rice landraces pp961 - 967 Xuehui Huang et al. doi:10.1038/ng.695 Bin Han and colleagues performed low-coverage sequencing of 517 rice landraces and constructed a high-density haplotype map of the rice genome. They have used this resource to carry out genome-wide association studies for 14 agronomic traits and identify 80 loci with strong association signals. Abstract: http://links.ealert.nature.com/ctt?kn=25m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=107m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 ---------------------- LETTERS ---------------------- Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants pp969 - 972 Yingrui Li et al. doi:10.1038/ng.680 Jun Wang and colleagues report the targeted capture and resequencing of the exomes of 200 Danish individuals at an average coverage of 12-fold. They identify an excess of low frequency non-synonymous variants that goes beyond previous predictions. Abstract: http://links.ealert.nature.com/ctt?kn=19m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=47m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 pp973 - 977 Richard S Houlston et al. doi:10.1038/ng.670 Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of similar effect size are likely to exist. Abstract: http://links.ealert.nature.com/ctt?kn=20m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=38m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci pp978 - 984 Nathaniel Rothman et al. doi:10.1038/ng.687 Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1. Abstract: http://links.ealert.nature.com/ctt?kn=21m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=37m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 pp985 - 990 Genetic Analysis of Psoriasis Consortium the Wellcome Trust Case Control Consortium 2 doi:10.1038/ng.694 Richard Trembath, Peter Donnelly and colleagues report a genome-wide association study identifying six new psoriasis susceptibility loci. They also identify a statistical interaction between HLA-C and ERAP1 in psoriasis susceptibility. Abstract: http://links.ealert.nature.com/ctt?kn=22m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=62m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2 pp991 - 995 Eva Ellinghaus et al. doi:10.1038/ng.689 Andre Franke and colleagues report a genome-wide association study for psoriasis vulgaris in a German cohort with replication in German and North American psoriasis cohorts. They identify variants in TRAF3IP2, encoding a protein involved in IL-17 mediated T-cell immune response, associated with psoriasis. Abstract: http://links.ealert.nature.com/ctt?kn=116m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=63m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis pp996 - 999 Ulrike Huffmeier et al. doi:10.1038/ng.688 Andre Reis and colleagues report a genome-wide association study identifying a susceptibility locus at TRAF3IP2 for psoriatic arthritis and psoriasis. Abstract: http://links.ealert.nature.com/ctt?kn=117m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=54m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Genome-wide association analysis identifies three psoriasis susceptibility loci pp1000 - 1004 Philip E Stuart et al. doi:10.1038/ng.693 James Elder and colleagues report meta-analyses of two psoriasis genome-wide association studies with replication in additional cohorts. They make use of imputation using both the HapMap and initial 1000 Genomes Project datasets and identify three new psoriasis susceptibility loci. Abstract: http://links.ealert.nature.com/ctt?kn=118m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=16m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Association analyses identify six new psoriasis susceptibility loci in the Chinese population pp1005 - 1009 Liang-Dan Sun et al. doi:10.1038/ng.690 Xue-Jun Zhang and colleagues report genome-wide association analyses identifying six new susceptibility loci in the Chinese population. Abstract: http://links.ealert.nature.com/ctt?kn=120m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=11m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 WDR62 is associated with the spindle pole and is mutated in human microcephaly pp1010 - 1014 Adeline K Nicholas et al. doi:10.1038/ng.682 C Geoffrey Woods and colleagues used targeted capture followed by massively parallel sequencing to identify mutations in WDR62 in microcephaly. WDR62 associates with the spindle pole during mitosis, and mutant WDR62 proteins fail to localize to spindle poles in dividing neural progenitors. Abstract: http://links.ealert.nature.com/ctt?kn=119m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=85m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture pp1015 - 1020 Timothy W Yu et al. doi:10.1038/ng.683 Christopher Walsh and colleagues used targeted high-throughput sequencing to identify mutations in WDR62 in human microcephaly. The authors report that WDR62 is a centrosomal protein. Abstract: http://links.ealert.nature.com/ctt?kn=122m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=87m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes pp1021 - 1026 Sabine Endele et al. doi:10.1038/ng.677 Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain. Abstract: http://links.ealert.nature.com/ctt?kn=121m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=78m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Genome-wide patterns of genetic variation among elite maize inbred lines pp1027 - 1030 Jinsheng Lai et al. doi:10.1038/ng.684 Jun Wang and colleagues report the resequencing of sixite maize inbred lines. The authors identified over 1 million SNPs and 30,000 insertion or deletion polymorphisms in this agricultural crop. Abstract: http://links.ealert.nature.com/ctt?kn=124m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=28m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 =========================== ADVERTISEMENT =========================== Nature Biotechnology FOCUS ON EPIGENETICS This Focus summarizes the progress that has been made in characterizing the epigenetic basis of disease and developmental pathways, and discusses the technologies that have made rapid progress possible in recent years, showing how those insights can be translated into practical applications. Read the Focus online for FREE until April 15, 2011: http://links.ealert.nature.com/ctt?kn=98m=35925986r=Mzg0ODUxNzcyMAS2b=2j=ODUxODQyNjkS1mt=1rt=0 Produced with support from: GlaxoSmithKline Cellzome Active Motif ===================================================================== You have been sent this Table of Contents Alert because you have opted in to receive it. 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For further technical assistance, please contact our registration department: registration@nature.com For print subscription enquiries, please contact our subscription department: subscriptions@nature.com For other enquiries, please contact our customer feedback department: feedback@nature.com Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne - San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS.
个人分类: 自然杂志|3134 次阅读|0 个评论
[转载]Nature Reviews Genetics Contents October 2010 Volume 11 Number 10 pp 663-739
XUPEIYANG 2010-9-18 08:42
NATURE REVIEWS GENETICS October 2010 Volume 11 Number 10 Visit Nature Reviews Genetics online to browse the journal. Now available at http://links.ealert.nature.com/ctt?kn=64m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Please note that you need to be a subscriber to enjoy full text access to Nature Reviews Genetics online. To purchase a subscription, please visit: http://links.ealert.nature.com/ctt?kn=39m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Alternatively, to recommend a subscription to your library, please visit http://links.ealert.nature.com/ctt?kn=74m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Sign up to Twitter for updates from Nature Reviews Genetics: http://links.ealert.nature.com/ctt?kn=34m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ********************************************************************* Nature Reviews Genetics Impact Factor: 27.822* (*2009 Journal Citation Report (Thomson Reuters, 2010)) ********************************************************************* =========================== ADVERTISEMENT =========================== Rapid mutation profiling with Assay Explorer(TM) Take the stress out of assay design Access 650 mutations across 40 cancer genes Select a predesigned panel or choose your own mutations http://links.ealert.nature.com/ctt?kn=51m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== STOP CLONING! Buy pre-cloned promoters and 3'UTRs delivered in luciferase reporter vectors to measure promoter induction and miRNA function. Quantify promoter activation across any pathway including our experimentally-validated pathways regulated by nuclear receptors, CREB NFkB, P53 and more! Visit SwitchGear Genomics and explore our genome-wide, assay-ready promoter and UTR reporters. http://links.ealert.nature.com/ctt?kn=57m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ===================================================================== =========================== ADVERTISEMENT =========================== Nature Reviews Genetics Free Poster - Regulation of microRNA biogenesis, function and degradation This Poster by Jacek Krol, Inga Loedige and Witold Filipowicz illustrates the wide range of mechanisms that participate in the regulation of miRNAs at the levels of their biogenesis, function and degradation. Access the Poster FREE online! http://links.ealert.nature.com/ctt?kn=71m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Produced with support from: Regulus Therapeutics ===================================================================== This month's FEATURED article: Ten years of genetics and genomics: what have we achieved and where are we heading? Edith Heard, Sarah Tishkoff, John A. Todd, Marc Vidal, G?nter P. Wagner, Jun Wang, Detlef Weigel and Richard Young p723 | doi:10.1038/nrg2878 http://links.ealert.nature.com/ctt?kn=58m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ===================================================================== From the editors p663 | doi:10.1038/nrg2882 Nature Reviews Genetics turns 10 this month. What does the next decade hold? http://links.ealert.nature.com/ctt?kn=22m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Comment: Adaptation - not by sweeps alone Jonathan K. Pritchard and Anna Di Rienzo p665 | doi:10.1038/nrg2880 There has been recent progress in identifying selective sweeps underlying a range of adaptations. Jonathan Pritchard and Anna Di Rienzo argue that many adaptive events in natural populations may occur by polygenic adaptation, which would largely go undetected by conventional methods for detecting selection. http://links.ealert.nature.com/ctt?kn=25m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ---------------------- RESEARCH HIGHLIGHTS ---------------------- Development: Patterning factor poises genes for expression p668 | doi:10.1038/nrg2869 http://links.ealert.nature.com/ctt?kn=16m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Disease genetics: SNPs and the structural deficit p669 | doi:10.1038/nrg2871 http://links.ealert.nature.com/ctt?kn=19m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Regulatory elements: Predicting functional modules p669 | doi:10.1038/nrg2872 http://links.ealert.nature.com/ctt?kn=33m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Functional genomics: Vitamin D and disease p670 | doi:10.1038/nrg2873 http://links.ealert.nature.com/ctt?kn=7m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Genetic variation: Y variants tip the chromatin balance p670 | doi:10.1038/nrg2874 http://links.ealert.nature.com/ctt?kn=10m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Gene expression: Small but dominant RNA p670 | doi:10.1038/nrg2875 http://links.ealert.nature.com/ctt?kn=12m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 IN BRIEF Human genomics | Development | Population genetics | Genetics of gene expression p671 | doi:10.1038/nrg2876 http://links.ealert.nature.com/ctt?kn=79m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Small RNAs: Targeting transcripts for destruction p672 | doi:10.1038/nrg2870 http://links.ealert.nature.com/ctt?kn=42m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 IN BRIEF Functional genomics | Quantitative traits | Complex disease | Cancer genomics p672 | doi:10.1038/nrg2877 http://links.ealert.nature.com/ctt?kn=91m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ---------------------- REVIEWS ---------------------- Article series: Applications of next-generation sequencing http://links.ealert.nature.com/ctt?kn=56m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Evaluating genome-scale approaches to eukaryotic DNA replication David M. Gilbert p673 | doi:10.1038/nrg2830 This article reviews the increasing range of genome-scale methods that are being used to analyse eukaryotic DNA replication. Studies in different species and of replication timing or origin location have yielded varying degrees of success; technical hurdles remain, but important biological insights have been gained. Abstract: http://links.ealert.nature.com/ctt?kn=90m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=54m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article series: Applications of next-generation sequencing http://links.ealert.nature.com/ctt?kn=56m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Advances in understanding cancer genomes through second-generation sequencing Matthew Meyerson, Stacey Gabriel and Gad Getz p685 | doi:10.1038/nrg2841 Cancer is fundamentally a disease of the genome and so high-throughput sequencing technologies offer great potential for improving our understanding of the biology and treatment of cancer. Experimental strategies, computational approaches and cancer-specific considerations for detecting different types of genomic alterations are discussed. Abstract: http://links.ealert.nature.com/ctt?kn=88m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=62m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Genomics and the future of conservation genetics Fred W. Allendorf, Paul A. Hohenlohe and Gordon Luikart p697 | doi:10.1038/nrg2844 This article discusses how genomic techniques are expected to provide new insights into important problems in conservation and to allow questions to be addressed that have previously not been tractable. The authors also offer advice on choosing the most appropriate genomic approaches for studying different aspects of conservation. Abstract: http://links.ealert.nature.com/ctt?kn=87m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=66m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Advances in understanding tissue regenerative capacity and mechanisms in animals Kenneth D. Poss p710 | doi:10.1038/nrg2879 What determines whether a tissue or organism can regenerate? What are the cellular sources of regeneration? How are regenerative signals initiated and targeted, and what controls proliferation and patterning during regeneration? Studies in a range of model systems are addressing these key questions. Abstract: http://links.ealert.nature.com/ctt?kn=86m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=68m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 ---------------------- PERSPECTIVES ---------------------- VIEWPOINT Ten years of genetics and genomics: what have we achieved and where are we heading? Edith Heard, Sarah Tishkoff, John A. Todd, Marc Vidal, Gunter P. Wagner, Jun Wang, Detlef Weigel and Richard Young p723 | doi:10.1038/nrg2878 To celebrate the first 10 years of Nature Reviews Genetics, we asked eight leading researchers for their views on the key developments in genetics and genomics in the past decade and the prospects for the future. Abstract: http://links.ealert.nature.com/ctt?kn=58m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=69m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 OPINION Tackling the widespread and critical impact of batch effects in high-throughput data Jeffrey T. Leek, Robert B. Scharpf, Hector Corrada Bravo, David Simcha, Benjamin Langmead, W. Evan Johnson, Donald Geman, Keith Baggerly and Rafael A. Irizarry p733 | doi:10.1038/nrg2825 Batch effects can lead to incorrect biological conclusions but are not widely considered. The authors show that batch effects are relevant to a range of high-throughput 'omics' data sets and are crucial to address. They also explain how batch effects can be mitigated. Abstract: http://links.ealert.nature.com/ctt?kn=20m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Article: http://links.ealert.nature.com/ctt?kn=81m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 =========================== ADVERTISEMENT =========================== SUBSCRIBE to Nature Reviews Genetics TODAY and receive your own personal copy delivered directly to your door each month. PLUS you will gain full online access to the entire archive since launch. http://links.ealert.nature.com/ctt?kn=39m=35800562r=Mzg0ODUxNzcyNQS2b=2j=ODIxNzczODES1mt=1rt=0 Nature Reviews Genetics is the no. 1 monthly review journal in genetics and heredity*. Ensure you have access. ===================================================================== You have been sent this Table of Contents Alert because you have opted in to receive it. 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For further technical assistance, please contact our registration department: registration@nature.com For print subscription enquiries, please contact our subscription department: subscriptions@nature.com For other enquiries, please contact our customer feedback department: feedback@nature.com Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne - San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. (c) Copyright 2010 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
个人分类: 自然杂志|2585 次阅读|0 个评论
[转载]Top 25 Articles Biochemistry, Genetics and Molecular Biology April to June
xupeiyang 2010-9-2 14:22
http://top25.sciencedirect.com/subject/biochemistry-genetics-and-molecular-biology/3/archive/27/ Biochemistry, Genetics and Molecular Biology April to June 2010 RSS Blog This!