ヒトゲノムの構造的変異配列解析のリソースは,変異のメカニズムについての洞察を明らかにします
Jeffrey M Kidd1, Tina Graves, Tera L Newman
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, 98195, USA.
Cell
|November 30, 2010
まとめ
この研究は,マイクロホモロジー,ホモロジ再結合,L1逆転移を含むヒトゲノム構造的変異を駆動する重要なメカニズムを特定しています. これらの発見は,遺伝子変異とその起源についての理解を深める.
科学分野:
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
- 人間の遺伝学 人間の遺伝学
背景:
- ヒトゲノムの構造的変異の正確な特徴づけは,変異のメカニズムを理解するために不可欠です.
- 既存の方法は,詳細なブレイクポイント分析に必要な精度が欠けていることが多い.
研究 の 目的:
- ヒトの構造変異を発見し,正確に描写するための包括的なリソースを開発する.
- ゲルムラインの構造的変異の基礎となる主要な変異機構を特定し,特徴づけること.
主な方法:
- 17人のヒトゲノムから130万個のフォスミドクローンの毛細血管末端配列解析.
- 1054の特徴づけられた構造変数 (削除,挿入,逆転) から2081のブレイクポイント・ジャンクションの分析.
主要な成果:
- 589の削除,384の挿入,81の逆転を含む1054の大きな構造変異を特定しました.
- マイクロホモロジー媒介によるプロセス (28%),非アレルホモローグ的再結合 (22%),およびL1逆転移 (19%) が,生殖系統の構造的変化の大部分を占めていることを決定した.
- 繰り返し媒介の逆転や遺伝子変換などの複雑なメカニズムが明らかにされ,他の技術では見逃された.
結論:
- マイクロホモロジー,ホモログ的再結合,およびL1の逆転移は,ヒトの生殖系統の構造的変化の主なメカニズムである.
- 高品質で長時間読解可能なシーケンシングは,複雑な変異過程を明らかにするために不可欠です.
- 開発されたリソースは,ゲノム構造的多様性を研究するための正確な基礎を提供します.
関連する概念動画
Genomics
35.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
35.5K
Evolutionary Relationships through Genome Comparisons
5.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.8K
Comparing Copy Number Variations and SNPs
11.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K
Next-generation Sequencing
87.9K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
87.9K
Single Nucleotide Polymorphisms-SNPs
14.6K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.6K
Spontaneous and Induced Mutations
3.2K
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
3.2K


