Name: genome variation in cnvs and snps
Uploaded: 2021-04-07T12:11:59.000Z
Duration: 2 min 26 s
Channel: JoVE

K12 Standards

Louisiana Student Standards for Science

High School

Life Sciences

Biological Evolution: Unity And Diversity

HS-LS4-1

comparing-copy-number-variations-and-snps

Comparing Copy Number Variations and SNPs

DNAのセグメントの追加や欠失などのゲノム変異は、集団で一般的に観察されます。集団のゲノム変異は、DNAの一塩基の変化または染色体の構造変化によって発生する可能性があります。
コピー数多型またはCNVは、1キロ塩基対を超えるDNAセグメントが関与する構造的変異を定義する包括的な用語です。
関与する染色体セグメントに遺伝子が含まれている場合、CNVは重複と挿入によってその遺伝子のコピー数を増やしたり、欠失によってコピー数を減らしたりして遺伝子型をゼロにすることができます。
したがって、一部の個人は、遺伝子のコピーを2つ以上持っている場合もあれば、コピーがまったくない場合もあります。たとえば、ヨーロッパの遺伝的祖先の一部の人々は、アカゲザルの血液型遺伝子であるRHDの2つのコピーを持っているかもしれませんが、1つだけ持っている人もいれば、まったく持っていない人もいます。 
CNVは、機能的な遺伝子コピーの数に依存する表現型に影響を与える可能性があります。でんぷんベースの食事が一般的であるヨーロッパ系アメリカ人およびアジア地域では、デンプン代謝に関与する遺伝子である遺伝子AMY1のコピー数が高くなります。
CNVは、乾癬、パーキンソン病、自閉症や統合失調症などの行動障害など、いくつかの疾患とも関連しています。
CNVは通常、大きなDNA配列のバリエーションをカバーしていますが、一塩基多型またはSNPは、ゲノム全体に見られるランダムな一塩基置換です。
このような塩基置換は1000ヌクレオチドごとに1回発生しますが、すべてがSNPとして適格であるわけではありません。一般に、人口の1%以上に見られるヌクレオチド変異のみがSNPと呼ばれます。
SNPは、糖尿病やがんなど、さまざまな病気を引き起こす可能性があります。例えば、鎌状赤血球貧血の患者では、β-グロビン遺伝子の特定の遺伝子座におけるアデニンからチミンへの一塩基置換が鎌状の赤血球を引き起こす。

<ol>
	<li>「ヒトゲノムにおけるコピー数変異の臨床的背景」 分子医学の専門家レビュー 12 (2010).</li>
	<li>「法医学的に関連するSNPクラス」 Biotechniques 44, no. 5 (2008): 603-610.</li>
</ol>

コピー数の変異とsnpの比較

ヒトゲノムの配列決定により、ゲノムのいくつかの最大の秘密が明らかになりました。科学者たちは、集団内に存在する何千ものゲノム変異を特定しました。これらの変異は、単一のヌクレオチドまたはより大きな染色体変異である可能性があります。

コピー数変異またはCNVは、1kbを超えるDNA配列をカバーする構造変異です。一方、一塩基多型(SNP)は、人口の1%以上に見られる単一ヌクレオチドの変化または点突然変異です。CNVとSNPはどちらも、遺伝子スクリーニング研究や血縁関係の分析において非常に価値があります。

CNVの形式。

CNVには5つの形式があります。1つ目は削除と呼ばれます。DNAセグメントの損失により、遺伝子または遺伝子グループのコピー数が減少する可能性があります。2番目はタンデム複製と呼ばれます。ここでは、染色体セグメントのコピーが隣接する領域に挿入されます。3番目は不連続重複と呼ばれます。ここでは、染色体セグメントが複製されて、離れた染色体領域または異なる染色体に挿入されます。4番目の形式は、多対立遺伝子CNVと呼ばれます。DNAのセグメントは数回複製され、その結果、遺伝子の複数の対立遺伝子が形成されます。5番目の形式は、複雑な再配置と呼ばれます。ここでは、DNAのセグメントが複製され、反転してから、同じまたは異なる染色体に挿入されます。

一塩基多型

一塩基多型(SNP)は、単一ヌクレオチド塩基の変化を伴う別のタイプのゲノム変異です。科学者たちはヒトゲノム全体で何千ものSNPを特定しており、それらは遺伝性疾患や法医学的分析のための遺伝マーカーとして日常的に使用されています。

SNPは用途に応じて4つのタイプに分類されます。身元検査SNPは、人々を区別し、家族関係から人々を排除するために使用されます。系統情報を提供するSNPは、家族分析で行方不明の個人を特定するのに役立つ密接に関連したSNPです。祖先情報を提供するSNPは、人の祖先を確立し、それを表現型の特徴と結び付けるのに役立ちます。表現型情報SNPは、肌の色、目の色など、特定の表現型を継承する確率を確立します。

コピー数の変異とSNPの比較

ヒトゲノムのシーケンシングにより、ゲノムのいくつかの秘密が明らかになりました。科学者たちは、存在する何千ものゲノム変異を特定しました...

Education

JoVE Core

Molecular Biology

分子生物学

Unit 2

ユニット2

Genomes and Evolution

ゲノムと進化

KEY TERMS AND CONCEPTS

主要用語と概念

genome variation in cnvs and snps

Genome variation in CNVs and SNPs shows how DNA can differ across people in a population. These differences may involve a single nucleotide, which is one DNA base, or a larger chromosomal change. Scientists study them to understand inherited variation in the human genome.

Copy number variations, or CNVs, are structural changes that cover more than 1 kb of DNA sequence. A CNV can change the number of copies of a gene or a group of genes. The main forms are deletion, tandem duplication, noncontiguous duplication, multiallelic CNV, and complex rearrangement.

A deletion removes a DNA segment and can lower gene copy number. In tandem duplication, a copied chromosomal segment is inserted next to the original region. In noncontiguous duplication, the copied segment moves to a distant chromosomal region or even a different chromosome. Multiallelic CNV creates several copies and can produce multiple alleles of a gene. In complex rearrangement, a segment duplicates and inverts before it is inserted back into the same or a different chromosome.

Single nucleotide polymorphism, or SNP, is another genomic variation that changes one nucleotide base. A SNP is a point mutation found in more than 1% of the population. Scientists have identified thousands of SNPs across the human genome, and they are widely used as genetic markers in studies of inherited disease and forensic analysis.

SNPs are grouped by use into four types. Identity-testing SNPs help distinguish people and exclude familial connections. Lineage informative SNPs are tightly linked SNPs that help identify missing individuals in family analysis. Ancestry informative SNPs help connect a person's ancestry with related phenotypic traits. Phenotype informative SNPs help estimate the chance of traits such as skin color or eye color.

Genome Variation in CNVs and SNPs

evolutionary relationships through genome comparisons

evolutionary-relationships-through-genome-comparisons

Tracing Evolution with Genome Data

Genome data helps scientists trace how organisms are related over time. When two species share a common feature, it is often encoded by DNA sequences that have stayed conserved in both species. As genome sequencing improved in the late 20th century, researchers gained a better way to compare conserved domains across species and use that evidence to infer evolutionary relationships. Genome comparison can show evolutionary relationships at three levels. At the broadest level, it highlights...

genome copying errors

DNA Replication Error Checks

DNA replication includes built-in error checks that protect the genome during cell division. Even though this process copies millions of base pairs with high fidelity, a wrong base or a longer stretch of wrong bases can still be added to the daughter strands. If these mistakes are not corrected, cells may build up mutations that can threaten survival. One level of repair is proofreading. DNA polymerase enzymes, which build the new DNA strand, can make about 1 incorrect nucleotide per 100,000...

phylogenetic trees

Reading Evolution in Phylogenetic Trees

Phylogenetic trees show how organisms are related through evolution. They map branching patterns that trace common ancestry and help scientists compare species over time. A phylogenetic tree can be read like a family tree for life. Each branch point marks a split from a shared ancestor, and the pattern of branches shows how closely related different organisms are. These trees are used to organize biological information and to study evolutionary change. They can also help scientists understand...

synteny and evolution

Chromosome Rearrangements and Synteny

Chromosome rearrangements and synteny show how shared gene order can reveal evolutionary history. Synteny means genes are found on the same chromosome, even if they are not genetically linked. John H. Renwick coined the term in 1971. Species with common ancestry often keep conserved syntenic regions. Scientists use synteny to compare the evolutionary relationship between species. Human and mouse lineages split from a common ancestor about 80 million years ago. Since then, the ancestral...

multi-species conserved sequences

Conserved DNA Across Species

Conserved DNA across species shows how some genome regions stay nearly unchanged over time. Next-generation sequencing has built large genome databases for many animals and plants. Since the Human Genome Project, scientists have compared the genomes of primates, mammals, and other distant species. These large studies have helped reveal evolutionary relationships between organisms. Although species genomes differ greatly, a few DNA sequences are highly conserved. Conserved DNA sequences found...

gene duplication and divergence

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Gene duplication helps drive evolution by creating extra copies of DNA that can change over time. The seminal work of Ohno in 1970 helped popularize this idea. DNA sequence comparisons show that many genes in bacteria, archaebacteria, and eukaryotes came from duplication and later divergence, which makes this process important in evolution. The duplicated copies of a gene are called paralogs. When paralogs have similar sequences and functions, they form a gene family. Many gene families have...

exon recombination

How Exons Mix to Form New Genes

Exon recombination helps new genes form by mixing exons from the same gene or from different genes. This process is also called exon shuffling or domain shuffling. It has been seen in vertebrates, invertebrates, and some plants, including potatoes and sunflowers. During exon recombination, exons join in new exon-intron combinations. These new combinations may later become new genes. Exon shuffling follows splice frame rules, which means the exons must fit the reading frame correctly. Each...

comparing copy number variations and snps

Genome variation in CNVs and SNPs shows how DNA can differ across people in a population. These differences may involve a single nucleotide, which is one DNA base, or a larger chromosomal change. Scientists study them to understand inherited variation in the human genome. Copy number variations, or CNVs, are structural changes that cover more than 1 kb of DNA sequence. A CNV can change the number of copies of a gene or a group of genes. The main forms are deletion, tandem duplication,...

key terms and concepts

Explore how copy number variations and SNPs change the human genome, from deletions and duplications to ancestry, identity, and phenotype markers.

Genome Variation in CNVs and SNPs | JoVE K12

molecular biology

JoVE Core 分子生物学は、明確で簡潔なアニメーション ビデオ レッスンを通じて細胞の分子プロセスを紹介します。さらに、科学者の実際のビデオでは、これらの概念の応用が現代の研究室での実際の実験を通じて実証されています。

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Ohio’s Learning Standards and Model Curriculum

9-12

Biology

Evolution

Speciation

Tennessee Academic Standards

Heredity

BIO1.LS3.2

Virginia  Standards of Learning

HIgh School

BIO.5

BIO.5.d

Minnesota Academic Standards in Science

Life Science

3.2.1 9L.3.2.1.3

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New Jersey Student Learning Standards for Science

Biological Evolution: Unity and Diversity

Arizona Science Standards

HS+B.L4

HS+B.L4U1.13

Next Generation Science Standards

heredity-inheritance-and-variation-of-traits

Heredity: Inheritance and Variation of Traits

HS-LS3-2

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New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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The Central Dogma

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Mutations

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Gene Families

Gene Evolution - Fast or Slow?

types-of-genetic-transfer-between-organisms

Types of Genetic Transfer Between Organisms

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Genome Copying Errors

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Phylogenetic Trees

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Exon Recombination

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Analyze and interpret scientific information that common ancestry and biological evolution are supported by multiple lines of empirical evidence. Emphasis is on a conceptual understanding of the role each line of evidence (e.g., similarities in DNA sequences, order of appearance of structure during embryological development, cladograms, homologous and vestigial structures, fossil records) demonstrates as related to common ancestry and biological evolution.

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Natural Selection

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Natural Selection and Mating Preferences

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Genetic Drift

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Gene Flow

Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.

This ...

Construct an explanation based on evidence that biological diversity is influenced by (1) the potential for a species to increase in number, (2) the heritable genetic variation of individuals in a species due to mutation and sexual reproduction, (3) competition for limited resources, and (4) the proliferation of those organisms that are better able to survive and reproduce in the environment. Emphasis is on using evidence to explain the influence each of the four factors has on number of organisms, behaviors, morphology, or physiology in terms of ability to compete for limited resources and subsequent survival of individuals and adaptation of species. Examples of evidence could include mathematical models such as simple distribution graphs or proportional reasoning.

HS-LS4-2

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Hardy-Weinberg Principle

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Apply concepts of statistics and probability to support explanations that populations of organisms adapt when an advantageous heritable trait increases in proportion to organisms lacking this trait. Emphasis is on analyzing shifts in numerical distribution of traits and using these shifts as evidence to support explanations for adaptations. Explanations could include basic statistical or graphical analysis.

HS-LS4-3

Understanding Species and Reproductive Barriers

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Formation of Species

Speciation describes the formation of one or more new species from one or sometimes multiple original species. The resulting species are discrete from the ...

Speciation Rates

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Genetics of Speciation

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Extinction

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Evaluate evidence supporting claims that changes in environmental conditions can affect the distribution of traits in a population causing: (1) increases in the number of individuals of some species, (2) the emergence of new species over time, and (3) the extinction of other species. Emphasis is on determining cause and effect relationships for how changes to the environment such as deforestation, overfishing, application of fertilizers, drought, flood, and the rate of change of the environment affect distribution or disappearance of traits in species.

HS-LS4-5

Genome Variation in CNVs and SNPs

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