Name: genomics and dna sequencing
Uploaded: 2020-02-27T08:54:11.000Z
Duration: 2 min 2 s
Channel: JoVE

개별 유전자의 연구가가져온 엄청난 통찰력은 생물학의 거의 모든 측면질병과 유전, 농업 및 진화에 이르기까지영향을 미쳤다하지만, 유전자가 어떻게 작동하고 진화하는지에 대한 의문은유기체의 DNA, 즉 유전체 전체를 연구함으로써만답이 가능할 수 있다전체 유전체의 연구는 유전체학으로 알려져 있다그 분야는 전체 유전체 서열 분석을 하여유전체의 조직, 기능 규제 및 진화를조사한다유전체학은 유전학분자 생물학 및 컴퓨터 과학의 접점에 있다DNA 구조가 1953년에 밝혀진 후에과학자들은 개별 유전자를 서열 분석하는기술을 개발하기 시작했다DNA 서열 분석에서의 돌파구는1977년에 나왔는데 F. Sanger가전체 유전체를 서열화하는 방법을 개발해낸 것이다이 방법으로 제빵업자의 효모와 초파리의 유전체 서열 분석을했는데, 샷건 서열 분석법을 이용하였다1990년의 인간 유전체 프로젝트는13년에 걸친 27억 달러의 국제적인 노력으로서2003년에 최초로 인간 유전체를 성공적으로 서열화하였다이 프로젝트의 성공으로 서열 분석 기술의혁신을 가져왔고, 인간 유전체는 이제 하루만에 서열화할 수 있고가격도 천 달러 이하이다생성된 많은 양의 데이터는생물 정보학 분야를 탄생시켰는데수학과 컴퓨터 공학 기술을 결합하여방대한 양의 유전체 데이터를 조직하고분석하고 비교한다유전체학은 이제 이를테면 암 치료에 있어서맞춤형 의학의 중요 구성 요소가 되었고앞오로 계속 중요한 역할이인류학, 진화학 법의학농업 분야에서 기대된다

유전체학의 부상. Comptes Rendus 생물학. 339권, 7-8호, 2016년 7-8월, 231-239페이지. [<a href="https://doi.org/10.1016/j.crvi.2016.05.002" target="_blank">소스</a>]
질병에 대한 다중 오믹스 접근 방식. 게놈 Biol. 2017; 18: 83. [<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418815/" target="_blank">출처</a>]

유전체학

Genomics

유전체학(genomics)은 유기체의 모든 유전 물질에 대해 연구하는 분야입니다. 인간의 유전체는 미토콘드리아 DNA뿐만 아니라 핵 안에 있는 23쌍의 염색체에 있는 정보로 구성되어 있습니다. 유전체학에선 암호화(coding; 부호화; 코딩)와 비암호화(non-coding; 비부호화; 논코딩) DNA 모두 유전체 분석(genome sequencing)이 됩니다. 유전체학은 모든 생물, 그 생물의 진화와 다양성을 더 잘 이해할 수 있게 해줍니다. 유전체학은 무수히 많은 용도로 쓰이고 있습니다. 예를 들어 계통수(phylogenetic tree)를 만들고, 농작물의 생산성과 지속가능성을 향상하고, 범죄 수사를 돕고, 질병과 관련된 유전자를 확인하거나, 암 환자를 위한 최적의 치료를 찾기도 합니다.
 
 지난 30년 동안 DNA 염기서열분석(DNA sequencing)의 중요한 기술적 발전, 특히 국제적인 인간 유전체 프로젝트(Human Genome Project) 노력 덕분에 이루어졌습니다. 기술은 현재 인간 유전체의 20배 크기인 600억 개의 DNA 서열을 분석할 수 있습니다. 이처럼 풍부한 정보와 빅데이터를 통해 컴퓨터 과학자(computer scientist)와 생물정보학자(bioinformatician)들은 DNA 서열 데이터를 수집, 저장, 분석하기 위해 생물학자와 협력하는 동시에 이 데이터를 안전하게 접근하고 활용할 수 있게 만듭니다.
 
 유전체학의 성공으로 다른 대규모 방법을 이용해 생물학적 체계 전체를 조사할 수 있는 길이 열리게 되었습니다. 유전체 연구는 이제 생물에 대한 모든 수준의 데이터(종, 개체군, 개체, 세포, 단백질, RNA, DNA)를 수집하는 "오믹스(omics)" 연구를 통해 완성될 수 있습니다. 전사체학(transcriptomics)은 다른 실험이나 병리학적 조건에서 유전자의 전체적인 발현이 어떻게 변화하는지에 대한 연구입니다. 단백체학(proteomics)은 유기체나 체계를 구성하는 모든 단백질에 대한 연구입니다. 대사체학(metabolomics)은 주어진 생물학적 체계에 포함된 모든 대사물(당, 지방, 다른 분자)과 그들의 상호작용에 대한 연구입니다. 생물정보학(bioinformatics)과 떼려야 뗄 수 없는 "오믹스(omics)"는 환경의 복잡한 생물 집합을 바라보는 넓은 시야를 허용하고, 따라서 개인 맞춤형 의료(personalized medicine)의 길을 열어줍니다.

유전체학은 게놈의 과학입니다 : 유기체의 모든 유전 물질에 대한 연구입니다. 인간에서 게놈은 운반되는 정보로 구성됩니다.

Education

교육

JoVE Core

Biology

생물학

Genetics

유전학

Biotechnology

생명공학

KEY TERMS AND CONCEPTS

주요 용어 및 개념

genomics and dna sequencing

Genomics studies the full set of genetic material in an organism. In humans, that genome includes the DNA carried in 23 pairs of chromosomes in the nucleus, along with mitochondrial DNA. Genomics looks at both coding DNA and non-coding DNA, which helps scientists study how living things are built and how they differ.

This field is useful in many areas of biology and medicine. Scientists use genomics to build phylogenetic trees, improve crop productivity and sustainability, help with criminal investigations, find genes linked to disease, and support better cancer treatment choices. It also gives researchers a clearer view of evolution and biological diversity.

DNA sequencing has changed genomics over the past 30 years. Major progress came from the international Human Genome Project, which helped drive faster and more powerful sequencing methods. Today, technology can sequence about 60 billion DNA bases, or around 20 times the size of a human genome.

That amount of data requires bioinformatics, the use of computers to manage and study biological information. Computer scientists and bioinformaticians work with biologists to collect, store, analyze, and secure DNA sequencing results. Their teamwork makes it possible to handle large-scale genomic data.

Genomics also led to other large-scale &quot;omics&quot; studies. Transcriptomics examines how gene expression changes under different experimental or disease conditions. Proteomics studies all the proteins in an organism or system, and metabolomics studies the metabolites, such as sugars, fats, and other molecules, and how they interact.

Together, these omics fields give a broad view of living systems at the level of species, populations, individuals, cells, proteins, RNA, and DNA. Because they rely on bioinformatics, they help scientists understand complex biology in context. They also support the growth of personalized medicine.

Genomics and DNA Sequencing

what is genetic engineering?

How Scientists Edit DNA for New Traits

Genetic engineering changes an organism’s DNA to add useful traits. Scientists use it in bacteria, plants, animals, and even viruses for research, medicine, agriculture, and industry. It can bring major benefits, but it also raises ethical concerns about humans and the food supply. This work is possible because DNA has the same basic structure and genetic code across life. That shared code lets scientists modify DNA in several ways. One method is CRISPR/Cas9, often called molecular scissors,...

dna isolation

Steps in DNA Extraction

DNA extraction is the process of removing and purifying DNA from cells. It is used in many biotechnology and research applications, including molecular cloning. The main goal is to free DNA from the cell and prepare it for later study or use. The first step is cell lysis, which means breaking cells open. Researchers may use a homogenizer, sonicator, or bead beater to physically lyse the cells. They also often add detergent to chemically disrupt the lipid-based cell membranes. This helps...

recombinant dna technology

Recombinant DNA in Cloning and GMOs

Recombinant DNA is made by joining DNA from different sources in the lab. Scientists often use it to clone genes and study them in cells that are easy to handle, such as bacteria. Organisms that carry recombinant DNA are called genetically modified organisms, or GMOs. This technology gives scientists new tools for research, medicine, and agriculture. To build recombinant DNA, researchers place a gene of interest into a vector, which is a DNA carrier that moves foreign DNA into a host cell. The...

PCR Cycle for DNA Amplification

PCR is a laboratory method for making many copies of a DNA segment. It can turn a small amount of DNA into millions or even billions of copies in just a few hours. The process uses a heat-resistant DNA polymerase inside a machine called a thermocycler. PCR was developed by Kary Mullis in 1983, and he received the 1993 Nobel Prize in Chemistry for it. The method is fast, relatively inexpensive, and precise. It has become useful for molecular cloning, gene mutagenesis, pathogen detection, gene...

complementary dna

From mRNA to cDNA for Gene Studies

Complementary DNA, or cDNA, is made from messenger RNA (mRNA) so scientists can study which genes are active in cells and tissues. Only genes that are transcribed into mRNA are expressed. By extracting mRNA from cells, researchers can compare gene expression across samples. cDNA is produced by reverse transcription. This process copies mRNA into DNA, which is useful because mRNA does not contain introns, or non-coding regions, and other regulatory sequences. As a result, cDNA can help...

antibiotic selection

Antibiotic Resistance in Cloning

Antibiotic resistance genes help scientists find bacteria that took up a plasmid with a gene of interest. In genetic engineering, this resistance is used as a marker, not just as a medical concern. The same process also connects to the growing problem of resistant bacteria in the real world. Antibiotics, such as penicillin, stop bacterial growth or kill bacteria. When bacteria naturally have, or are engineered to carry, an antibiotic resistance gene, the antibiotic no longer works on them.

transgenic organisms

Creating Transgenic Plants and Animals

Transgenic organisms are genetically engineered to carry a transgene, which is a gene from a different species, in their genome. The inserted gene may be a new gene for that organism or a different version of one it already has. Scientists usually make transgenes with recombinant DNA and DNA cloning methods. Researchers use transgenic bacteria, plants, and animals to answer biological questions and to build useful tools. To make a transgenic organism, they first choose a transgenesis method,...

in-vitro mutagenesis (gene knockouts)

Knockout Mice and Gene Replacement

Knockout mice help researchers study gene function by showing what happens when a gene is turned off. These engineered animals are also useful for modeling human diseases such as cancer, Parkinson’s disease, and diabetes. A specific gene can be targeted by using a targeting vector, which is a piece of engineered DNA that replaces the normal gene and inactivates it. The vector has matching DNA sequences on both ends. These homologous sequences let the vector swap in for the target gene through...

crispr

CRISPR-Cas9 Gene Editing in Action

CRISPR-Cas9 is a genome editing tool that lets scientists change DNA at a specific location. It can add, remove, or rearrange genetic material. Researchers study it because it may help treat genetic disorders such as hemophilia and sickle cell anemia. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats, and Cas9 is a CRISPR-associated protein 9. The basic system includes a Cas9 endonuclease, which is an enzyme that cuts DNA, and a small RNA that guides Cas9 to the...

gene therapy

Gene Delivery for Serious Diseases

Gene therapy is a technique used to treat serious disease by adding a gene to a person’s cells. The added gene may be a healthy copy of a mutated gene. It may also be a different gene that inactivates or compensates for the disease-causing gene. One example is severe combined immunodeficiency, or SCID, caused by a mutation in the gene for adenosine deaminase. In that case, a working copy of the gene can be inserted so the patient’s cells make the enzyme again. This can cure the disease in some...

embryonic stem cells

How Embryonic Stem Cells Become Specialized

Embryonic stem cells are pluripotent cells that have not yet specialized. Pluripotent means they can give rise to many different cell types in the body. Because of this, they are useful in science and medicine for making cells needed in research or for replacing cells lost to damage or disease. These cells come from the inner cell mass of a blastocyst, which is an early embryo about 3 to 5 days after fertilization in humans. At this stage, the embryo has not yet implanted in the uterus. Human...

adult stem cells

Adult Stem Cells in the Small Intestine

Adult stem cells help maintain tissues by replacing old or damaged cells. These undifferentiated cells divide to make more stem cells or progenitor cells, which then become mature, specialized cells. Small groups of adult stem cells are found in many tissues, including the bone marrow, brain, skin, and gut. The small intestine shows this process clearly. Its lining, called the epithelium, is renewed continuously by adult stem cells. It is also the fastest replaced tissue in the human body,...

induced pluripotent stem cells

Reprogramming Mature Cells into Stem Cells

Reprogramming mature cells into stem cells lets scientists turn specialized cells back into an unspecialized state. These cells are called induced pluripotent stem cells, or iPSCs. Like embryonic stem cells, iPSCs are pluripotent, which means they can form all cell types. To make iPSCs, researchers start with mature cells such as skin fibroblasts or blood cells. The cells are grown in culture, and genes for several transcription factors are delivered with a viral vector. The cells then make...

reproductive cloning

Cloning Animals with SCNT

Reproductive cloning can produce a genetically identical copy of an entire organism. In adult animals, this is usually done with somatic cell nuclear transfer, or SCNT. Another way clones can form is by splitting an early embryo, which is similar to how identical twins arise naturally. In SCNT, an egg cell is taken from an animal and its nucleus is removed. This creates an enucleated egg. A somatic cell, which is any body cell that is not a sex cell, is then taken from the animal to be cloned.

genomics

Genomics studies the full set of genetic material in an organism. In humans, that genome includes the DNA carried in 23 pairs of chromosomes in the nucleus, along with mitochondrial DNA. Genomics looks at both coding DNA and non-coding DNA, which helps scientists study how living things are built and how they differ. This field is useful in many areas of biology and medicine. Scientists use genomics to build phylogenetic trees, improve crop productivity and sustainability, help with criminal...

key terms and concepts

Explore genomics, DNA sequencing, and bioinformatics. Learn how scientists study genomes, use omics, and apply this data in medicine, crops, and forensics.

Genomics and DNA Sequencing | JoVE K12

JoVE Core series brings biology to life through over 300 concise and easy-to-understand animated video lessons that explain key concepts in biology, plus more than 150 scientist-in-action videos that show actual research experiments conducted in today’s laboratories.

biology

JoVE Core 시리즈는 생물학의 주요 개념을 설명하는 300개가 넘는 간결하고 이해하기 쉬운 애니메이션 비디오 강의와 오늘날 실험실에서 수행된 실제 연구 실험을 보여주는 150개가 넘는 과학자 활동 비디오를 통해 생물학에 활기를 불어 넣습니다.

Genomics and DNA Sequencing

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