人类基因组项目 -- -- 高级

Why is understanding the whole human genome important?
::为什么理解整个人类基因组很重要?

That's over 3,000,000,000 pieces of information.
::超过3000万条信息

The was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our , Homo sapiens . Completed in April 2003, the HGP gave us the ability to, for the first time, read nature's complete genetic blueprint for building a human being. - National Human Genome Research Institute 
::这是历史上探索的伟大成就之一 -- -- 探索的内向航行,而不是对地球或宇宙的外向探索;国际研究努力,对我们的人类人类基因组成员的所有基因 -- -- 统称为基因组 -- -- 进行排序和绘图。 2003年4月完成的人类基因组研究使人类基因组能够首次阅读自然的完整基因蓝图,以建设人类。

The Human Genome Project
::人类基因组项目

The Human Genome
::人类基因组

All the of the human species makes up the human genome . This DNA consists of about 3 billion base pairs and is divided into thousands of genes on 23 pairs of . The human genome also includes regulatory and noncoding sequences of DNA, as shown in Figure .
::人类基因组由人类基因组组成,DNA由大约30亿对基对组成,分为23对基对的数千个基因组。 人类基因组还包括DNA的监管和非编码序列,如图所示。

The Human Genome Project
::人类基因组项目

Thanks to the Human Genome Project (HGP) , scientists now know a consensus DNA sequence of the entire human genome. The Human Genome Project was an international project that includes scientists from around the world. It began in 1990, and by 2003, scientists had sequenced all 3 billion base pairs of human DNA. Now they are trying to identify and characterize all the genes in the genome.
::由于人类基因组项目(HGP),科学家们现在了解了整个人类基因组的一致DNA序列。人类基因组项目是一个国际项目,包括来自世界各地的科学家。它始于1990年,到2003年,科学家们对全部30亿个人类DNA基对进行了排序。现在,科学家们正在试图识别基因组中的所有基因并确定其特征。

If we are all 99.9% genetically identical, what makes us different? How does that 0.1% make us tall or short, light or dark, develop or not? To understand that 0.1%, we also need to understand the other 99.9%. Understanding the human genome is the goal of the Human Genome Project. This project, publicly funded by the United States Department of Energy (DOE) ( Figure ); and the National Human Genome Research Institute (NHGRI) , part of the National Institutes of Health (NIH) , may be one of the landmark scientific events of our lifetime.
::如果我们都拥有99.9%的基因相同,我们有什么不同?0.1%的基因如何使我们高高、短、浅、暗、发育?要理解0.1%,我们还需要理解其他99.9%的基因组。了解人类基因组是人类基因组项目的目标。这个项目由美国能源部(图)(图)提供公共资金;国家卫生研究所(NHH)下属的国家人类基因研究所(NHGRI)可能是我们一生中具有里程碑意义的科学事件之一。

As stated above, the goal of the HGP is to understand the genetic make-up of the human species by determining the DNA sequence of the human genome ( Figure ) and the genome of a few model organisms . However, it is not just determining the 3 billion bases; it is understanding what they mean. How many human genes are there? Do these genes encode factors, transport proteins , growth factors, structural , or oncogenes ? Or any of the other various types of proteins? Does a base change in the consensus sequence of a gene cause a genetic disease? What is the phenotype associated with in a specific gene? Because of the HGP, these questions can be addressed.
::如上所述,HGP的目标是通过确定人类基因组(图)和少数模型生物基因组的DNA序列来理解人类基因构成;然而,它不仅仅是确定30亿个基数;而是了解它们的含义。有多少人类基因?这些基因是编码各种因素、迁移蛋白质、生长因素、结构因素、或肿瘤?还是其他任何种类的蛋白质?基因的协商一致序列的基数变化是否造成基因疾病?具体基因中的型数是什么?由于HGP,这些问题可以得到解决。

The genes in the genome are in the process of being identified and characterized, as are the proteins associated with those genes. A preliminary estimate of the number of genes in the human genome is around 22,000 to 23,000.
::基因组中的基因和与这些基因有关的蛋白质正在被识别和定性,人类基因组中的基因数目初步估计约为22 000至23 000。

The sequence of the human DNA is stored in databases available to anyone on the Internet. The U.S. National Center for Information (NCBI) , part of the NIH, as well as comparable organizations in Europe and Japan, maintain the genomic sequences in a database known as GenBank . Protein sequences are also maintained in this database. The sequences in these databases are the combined sequences of anonymous donors, and as such do not yet address the individual differences that make us unique. However, the known sequence does lay the foundation to identify the unique differences among all of us. Most of the currently identified variations among individuals will be single nucleotide polymorphisms , or SNPs. A SNP (pronounced "snip") is a DNA sequence variation occurring at a single nucleotide in the genome. For example, two sequenced DNA fragments from different individuals, GGATCTACCGAA to GGATTTACCGAA, contain a difference in a single nucleotide. If this base change occurs in a gene, the base change then results in two : the C allele and the T allele. Remember an allele is an alternative form of a gene. Almost all common SNPs have only two alleles. The effect of these SNPs on protein structure and function, and any effect on the resulting phenotype, is an extensive field of study.
::人类DNA序列存储在互联网上任何人都可以使用的数据库中。美国国家信息中心(NCBI)是NIH的一部分,以及欧洲和日本的可比组织,在称为GenBank的数据库中维护基因组序列。Protein序列也在这个数据库中维护。这些数据库的序列是匿名捐赠者的组合序列,因此尚未解决使我们独有的个体差异。然而,已知序列确实为确定我们所有个人的独特差异奠定了基础。目前确定的个人变异大多为单核酸多元形态,或者欧洲和日本的类似组织。SNP(宣布为“nip”)是基因组中单一核核酸序列的变异。例如,来自不同个人(GGATCTACCGAA)和GGATTACCGAAA)的两次序列DNA碎块,含有单一核酸化的差别。如果这一基变异发生在一个基因中,那么在两个基因组中,基础变异体将产生两种结果:C-所有NP的基因和Tele所有恒的基因类型。所有恒定的基因和Smeal 的所有基因都具有一种共同的基因。

ENCODE: The Encyclopedia of DNA Elements
::ENCODE: DNA元素百科全书

In September 2012, ENCODE, The Enc yclopedia o f D NA E lements, was announced. ENCODE was a colossal project, involving over 440 scientists in 32 labs the world-over, whose goal was to understand the human genome. It had been thought that about 80% of the human genome was "junk" DNA. ENCODE has established that this is not true. Now it is thought that about 80% of the genome is active. In fact, much of the human genome is regulatory sequences, on/off switches that tell our genes what to do and when to do it. Dr. Eric Green, director of the NHGRI, which organized this project, states, "It's this incredible choreography going on, of a modest number of genes and an immense number of ... switches that are choreographing how those genes are used."
::2012年9月,宣布了ENCODE,即DNA元素百科全书。ENCODE是一个巨大的项目,涉及全世界32个实验室的440多名科学家,目的是了解人类基因组。人们认为,人类基因组的80%是“junk”DNA。ENCODE已经证明这不是真的。现在,人们认为大约80%的基因组是活跃的。事实上,许多人类基因组是调控序列,开关/开关告诉我们的基因要做什么和何时做什么。NHGRI的主任Eric Green博士(NHGRI)组织了这个项目,他说,“它正在进行着这个令人难以置信的舞蹈摄影,有少量的基因和大量的...开关,这些基因是如何使用的。”

It is now thought that at least three-quarters of the genome is involved in making , and most of this RNA appears to help regulate gene activity. Scientists have also identified about 4 million sites where proteins bind to DNA and act in a regulatory capacity. These new findings demonstrate that the human genome has remarkable and precise, and complex, controls over the expression of genetic information within a .
::现在人们认为,至少有四分之三的基因组参与生产,而大部分RNA似乎有助于规范基因活动。 科学家们还查明了大约400万个蛋白质与DNA结合并具有监管能力的地点。 这些新的研究结果表明,人类基因组对基因信息在某体内的表达有着显著、精确和复杂的控制。

Summary
::摘要

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• The goal of the Human Genome Project is to understand the genetic make-up of the human species by determining the DNA sequence of the human genome and the genome of a few model organisms.
  ::人类基因组项目的目标是通过确定人类基因组的DNA序列和少数模型生物的基因组,了解人类的基因构成。
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• Understanding the human genome will allow research into genes and their corresponding proteins, and genetic diseases.
  ::了解人类基因组将允许对基因及其相应的蛋白质和遗传疾病进行研究。

Review
::回顾

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1. What are the goals of the Human Genome Project?
   ::人类基因组项目的目标是什么?
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2. Is the DNA sequence information generated by the HGP available to anyone, and if so, how?
   ::任何人是否可以得到高专所生成的DNA序列信息,如果可以,如何获得?
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3. What is maintained in the GenBank?
   ::银库里有什么?
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4. What are single nucleotide polymorephisms?
   ::什么是单核核酸多世纪论?
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5. What is ENCODE?
   ::什么是EONCODE?