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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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What is Population Genetics?01:25

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Comparing Copy Number Variations and SNPs02:26

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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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Evolutionary Relationships through Genome Comparisons02:54

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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...
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Hardy-Weinberg Principle01:49

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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医学および集団遺伝学の構造的変異基準

Ryan L Collins1,2,3, Harrison Brand1,2,4, Konrad J Karczewski1,5

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature
|May 29, 2020
PubMed
まとめ
この要約は機械生成です。

14891のゲノムから得られた構造変異 (SV) の新しい参照マップは,ヒトの病気と進化におけるそれらの重要な役割を明らかにしています. このリソースは遺伝子解釈と診断スクリーニングを助けます.

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科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • 人口遺伝学

背景:

  • 構造変異 (SV) は進化とヒトの病気に大きな影響を与える.
  • ゲノム配列決定は バイオバンクや遺伝子検査に不可欠です
  • 高度カバーゲノムからのSVの包括的な参照マップは欠けています.

研究 の 目的:

  • 大規模で多様な人口データセットを使用して,シーケンス解決構造変数 (SVs) の参照マップを作成します.
  • 希少なタンパク質の断片化にSVsの貢献と自然選択との関係を評価する.
  • 大規模で希少なSVを特定し,臨床的に有意な発見におけるその流行率を推定する.

主な方法:

  • gnomADで14,891のゲノムから構造変異 (SV) 参照マップの構築.
  • 433,371件のSVを分析した結果,世界各地の多様な集団でSVを発見した.
  • SV,単核型変種 (SNV) と自然選択圧力の相関分析.

主要な成果:

  • 433,371の構造変形 (SV) が発見され,複雑な景観が明らかになりました.
  • 稀なタンパク質断片化事件の25~29%を SV が占めていると推定される.
  • コード化地域における有害なSVに対する有意な自然選択と,規制要素における控えめな選択の特定
  • 3. 9% のサンプルで大規模で希少な SV が検出され,0. 13% が臨床的偶発的な発見の基準を満たしている可能性がある.

結論:

  • 新しい SV 参照マップは,集団遺伝学,疾患関連研究,臨床診断のための貴重なリソースを提供します.
  • 構造的変異 (SV) は遺伝的多様性において重要な役割を果たし,自然選択の対象である.
  • このリソースは gnomAD ブラウザを通じて利用可能であり,ゲノムデータの解釈を向上させ,診断スクリーニングを改善します.