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Dosage Compensation02:50

Dosage Compensation

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In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Human Genetics01:28

Human Genetics

701
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
701
Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Multiple Allele Traits01:49

Multiple Allele Traits

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The Concept of Multiple Allelism
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Updated: Sep 2, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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遺伝子の量によって 病気になるのです

Corrine Smolen1, Santhosh Girirajan1

  • 1Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, University Park, PA 16802, USA.

Cell
|August 5, 2022
PubMed
まとめ

研究者たちは 約100万人の個人を分析することで 投与量に敏感な遺伝子や 病気のリスクに関連するセグメントを特定しました この研究は,投与量の変化に不寛容な複製数変異領域における因果遺伝子の特定という課題に取り組んでいます.

科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • 病気 の 遺伝子 の 発見

背景:

  • コピー数変異 (CNV) 領域における因果遺伝子の特定は,ゲノミクスにおける重要な課題である.
  • 変異した遺伝子用量に不寛容な領域は,しばしば疾患の表型に関与する.

研究 の 目的:

  • 投与量に敏感なゲノムセグメントと関連する遺伝子を特定する.
  • これらのセグメントと遺伝子が様々な疾患の表型に与えるリスクを決定する.

主な方法:

  • 大規模なメタ分析が行われました.
  • この分析には 約100万人のデータが含まれていました
  • コピー数変異領域と遺伝子用量感度に焦点を当てました.

主要な成果:

  • ゲノム全体の特定の用量感受性セグメントの特定
  • これらのセグメント内で病気のリスクを与える遺伝子の発見
  • CNVに関連した疾患の遺伝的構造についての洞察が得られました.

結論:

  • この研究では,疾患リスクに関連する用量感受性領域と遺伝子を成功裏に特定しました.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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関連する実験動画

Last Updated: Sep 2, 2025

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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  • この研究は,ヒトの健康と病気における遺伝子用量効果の理解を進めている.
  • 将来の遺伝学研究や臨床応用に 価値ある情報源となる.