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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
Gene Conversion02:08

Gene Conversion

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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Synteny and Evolution02:31

Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...

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関連する実験動画

Updated: Jul 6, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

ハプロタイプ構造からヒトゲノムにおける最近の陽性選択を検出する.

Pardis C Sabeti1, David E Reich, John M Higgins

  • 1Whitehead Institute/MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA.

Nature
|October 25, 2002
PubMed
まとめ

科学者たちは,拡張ハプロタイプホモジゴシティ (EHH) を分析することによって,ヒトDNAの最近の自然選択を検出する新しい方法を開発しました. この枠組みは,マラリア耐性遺伝子の選択の遺伝的サインを特定し,人間の進化と医学への洞察を提供しました.

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

関連する実験動画

Last Updated: Jul 6, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

科学分野:

  • 人間の遺伝学 人間の遺伝学
  • 進化生物学の進化生物学について
  • 人口遺伝学 人口遺伝学

背景:

  • 最近の人類の自然選択を検出することは,人類の歴史と医療の進歩を理解するために不可欠です.
  • 以前の方法は,ヒトゲノムにおける最近の適応的出来事を特定する精度が不足していた.

研究 の 目的:

  • 人種集団における最近のポジティブ・セレクションの遺伝的インプリントを検出するための新しい枠組みを導入する.
  • この枠組みを適用して,マラリア耐性に関連する遺伝子の選択シグネチャーを識別する.

主な方法:

  • 特定の遺伝的場所でのコアハプロタイプを特定するために,長距離ハプロタイプの分析.
  • 拡張ハプロタイプホモジゴシティ (EHH) 衰退を用いたハプロタイプ年齢の評価.
  • 陽性選択の指標として,高いEHHと人口の頻度を持つコアハプロタイプの識別.

主要な成果:

  • このフレームワークは,G6PDおよびCD40リガンド遺伝子ロシオンの最近の陽性選択の有意な証拠を成功裏に特定しました.
  • マラリア耐性を与える突然変異に関連したコアハプロタイプが目立っており,迅速な適応を示しています.
  • この方法は,最近の陽性選択のための全ゲノムスキャンの可能性を示しています.

結論:

  • 開発されたハプロタイプ分析フレームワークは,ヒト集団における最近の自然選択の検出に有効です.
  • このアプローチは,ヒトの人口の進化史と疾患耐性についての貴重な洞察を提供します.
  • この方法は,適応的進化のためのゲノムスキャンにおけるより広範な応用が期待されています.