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

遺伝子の研究は 病気から遺伝、さらには農業から 進化まで、生物学の あらゆる分野に 並々ならぬ見識を もたらしてきました。しかしながら、遺伝子と進化の 仕組みに関する数多くの質問に 対する答えは、生物のゲノム、つまりすべてのDNAを研究しなければ 見つけることができません。完全なゲノムを研究する 分野はゲノミクスと呼ばれています。全ゲノム配列を 解析し、その構成、機能、制御、そして 進化を調べます。ゲノミクスとは、遺伝学、分子生物学、計算科学が 融合した学問です。1953年にDNAの構造が 特定されて以来、科学者たちは個々の 遺伝子配列を解析する 技術を開発してきました。DNAシークエンシングが 重要な発展を遂げたのが 1977年の フレデリック・サンガーによる ゲノム全体の塩基配列を 解析する手法の開発です。この開発が、ショットガン シークエンス法を使った パン酵母とミバエの ゲノム配列の解析に繋がりました。1990年に開始された ヒトゲノム解析計画は、13年間の歳月と27億ドルの 費用をかけた国際的な努力によって 2003年に初めて ヒトゲノムの解析に成功しました。このプロジェクトの成功により、シークエンシング技術が飛躍的な 進歩を遂げ、現在ではヒトゲノムを 1, 000ドル以下の費用で 1日で解析ができるようになりました。膨大に生み出された データに伴って、数学とコンピュータ サイエンスの技術を 組み合わせて 膨大な遺伝データを 整理、分析、比較する バイオインフォマティクス という研究分野が 新たに誕生しました。現在のゲノミクスは ガンの治療などの 個別化医療の 中心的な要素と なっており、人類学、進化学、法医学、農業など 多くの分野でも 引き続き重要な 役割を担っています。

ゲノミクスの台頭。Comptes Rendus Biologies.第339巻、第7〜8号、2016年7月〜8月、231〜239ページ。[<a href="https://doi.org/10.1016/j.crvi.2016.05.002" target="_blank">ソース</a>]
疾患に対するマルチオミクスアプローチ。ゲノムバイオル。2017;18: 83.[<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418815/" target="_blank">ソース</a>]

ゲノミクス

Genomics

ゲノミクスとは、生物のすべての遺伝物質を研究する「ゲノムの科学」です。ヒトの場合、ゲノムは、核の中にある23対の染色体とミトコンドリアのDNAで構成されています。ゲノミクスでは、コード化されたDNAとコード化されていないDNAの両方の配列を決定し、分析します。ゲノミクスによって、すべての生物、その進化、そして多様性についての理解が深まります。例えば、系統樹の構築、農作物の生産性や持続性の向上、犯罪捜査の支援、病気に関連する遺伝子の特定、がん患者の最適な治療法の追求など、数え切れないほどの用途があります。
 
 過去30年の間に、特に国際的な「ヒトゲノム計画」の取り組みにより、DNA配列決定の技術が大きく発展しました。現在では、ヒトゲノムの20倍に相当する600億個のDNA塩基を配列する技術が存在しています。このような豊富な情報やビッグデータをもとに、コンピュータ科学者やバイオインフォマティシャンが生物学者と協力して、DNAシーケンスの成果を収集、保存、分析するとともに、データへの安全なアクセスを可能にしています。 
 
 ゲノミクスの成功は、生物システム全体を調査する他の大規模な手法への道を開いてくれました。ゲノミクスの成功により、生物システム全体を調査するための他の大規模な手法への道が開かれました。トランスクリプトームは、異なる実験的または病理学的条件の下で、遺伝子の全体的な発現がどのように変化するかを研究するものです。プロテオミクスは、生物やシステムを構成するすべてのタンパク質を研究する学問です。メタボロミクスは、ある生物システムに含まれるすべての代謝物（糖、脂肪、その他の分子）とその相互作用を研究する学問です。バイオインフォマティクスとは切り離せない「オミクス」は、複雑な生命体とその環境を包括的に把握することを可能にし、個別化医療への道を拓くものです。

ゲノミクスはゲノムの科学であり、生物のすべての遺伝物質の研究です。人間では、ゲノムは運ばれる情報で構成されています...

Education

JoVE Core

Biology

生物学

Genetics

遺伝学

Biotechnology

バイオテクノロジー

KEY TERMS AND CONCEPTS

主要用語と概念

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 シリーズは、生物学の重要な概念を説明する 300 を超える簡潔でわかりやすいアニメーション ビデオ レッスンに加え、今日の研究室で行われる実際の研究実験を示す 150 以上の科学者の活動ビデオを通じて、生物学に命を吹き込みます。

Genomics and DNA Sequencing

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