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Gene Conversion02:08

Gene Conversion

9.8K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.8K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

6.2K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.2K
Genome Copying Errors02:46

Genome Copying Errors

4.3K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.3K
Exon Recombination02:32

Exon Recombination

3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.8K
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%...
17.8K
Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

12.7K
The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
12.7K

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Updated: Jul 30, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

11.7K

ヒトのセグメンタル複製内の変異と遺伝子変換の増加

Mitchell R Vollger1,2, Philip C Dishuck1, William T Harvey1

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Nature
|May 10, 2023
PubMed
まとめ
この要約は機械生成です。

単核酸変種 (SNVs) は,ヒトのセグメンタル複製 (SDs) で60%高く,主にインターロカス遺伝子変換 (IGC) による. この研究は,IGCホットスポットをマッピングし,SDにおける明確なSNV変異パターンを明らかにしています.

さらに関連する動画

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K
Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
06:59

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Published on: March 31, 2022

2.5K

関連する実験動画

Last Updated: Jul 30, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

11.7K
Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K
Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
06:59

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Published on: March 31, 2022

2.5K

科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • 進化生物学

背景:

  • セグメンタル重複 (SDs) は,短読配列データに対するマッピングの課題であり,これらの領域内の単核酸変異 (SNVs) の研究を制限する.
  • SDにおけるSNVパターンの理解は,ゲノム進化と疾患関連を理解するために不可欠です.

研究 の 目的:

  • 短読マッピングの制限を克服することで,ヒトセグメンタル複製 (SD) のSNVを体系的に評価する.
  • SD内のSNVパターンにおけるインターロカス遺伝子変換 (IGC) の役割を調査する.
  • SDにおけるSNVの変異スペクトルと進化年齢を特徴づける.

主な方法:

  • 102のヒトハプロタイプにわたる高アイデンティティのSDをカバーする1:1の明確なアライメントの構築.
  • 単一のゲノム領域と複製されたゲノム領域のSNVパターンの比較
  • 影響を受けたタンパク質をコードする遺伝子の分析を含む,IGCドナーと受容体の全ゲノムマップの開発.
  • SD領域の進化年齢を評価するコアレスセントの枠組みの適用

主要な成果:

  • ヒトのSNVは,SDでは独特の地域と比較して60%増加しています.
  • この増加の少なくとも23%はインターロカス遺伝子変換 (IGC) に起因し,広範な配列変換が観察されました.
  • ゲノム全体の地図では,約800のタンパク質をコードする遺伝子のエクソンに影響する多数のIGCホットスポットが特定され,一部の遺伝子は有意な移転を示しています.
  • SD領域は,おそらくIGCのために,進化的にユニークな配列よりも少し古い.
  • SDsのSNVは,変異のスペクトルを有しており,変異が増加し,CpGに関連した変異が減少し,GC含有量が高くなる.

結論:

  • インターロカス遺伝子変換は,ヒトのセグメンタル複製におけるSNV率の上昇に大きく寄与する.
  • この研究は,SDs内のタンパク質をコードする遺伝子に対するIGC活動とその影響の包括的なマップを提供します.
  • SDにおけるSNVの異なった変異特性により,GC含有量が高くなり,GCバイアスの影響で並行配列間の変換が起こる可能性が高い.