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Mismatch Repair01:36

Mismatch Repair

Overview
Mutations01:39

Mutations

Overview
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Updated: Jul 13, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

MDR1遺伝子の"静かな"ポリモルフィズムにより,基板特異性が変化する.

Chava Kimchi-Sarfaty1, Jung Mi Oh, In-Wha Kim

  • 1Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. kimchi@cber.fda.gov

Science (New York, N.Y.)
|December 23, 2006
PubMed
まとめ

多剤耐性1 (MDR1) 遺伝子の同義単核酸多型形 (SNPs) は,P-グリコタンパク質 (P-gp) 機能を変化させる. これは,タンパク質濃度が変化しないにもかかわらず発生し,構造的な変化が薬物相互作用に影響することを示唆しています.

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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

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Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
06:10

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

関連する実験動画

Last Updated: Jul 13, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

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Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
06:10

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

科学分野:

  • ファルマコゲノミクスとは
  • 分子生物学は分子生物学である.
  • タンパク質生化学 タンパク質生化学

背景:

  • 同義語単核酸ポリモルフィズム (SNPs) は通常,タンパク質の配列や機能を変化させない.
  • 多剤耐性1 (MDR1) 遺伝子は,薬物輸送に関与する重要な排水ポンプであるP-グリコタンパク質 (P-gp) をコードする.
  • 以前の研究では,特定のMDR1ハプロタイプがP-gp機能の変化と関連していた.

研究 の 目的:

  • MDR1遺伝子における同名のSNPの機能的影響を調査する.
  • この同義語SNPがP-グリコタンパク質 (P-gp) 相互作用と薬物および阻害剤に影響するかどうかを判断する.

主な方法:

  • 野生型および多形性P-gp.の比較分析
  • mRNAおよびタンパク質発現レベルの評価.
  • P-gpコンフォーメーションの評価と,基板と阻害剤との相互作用.

主要な成果:

  • MDR1遺伝子の同名のSNPが,P-gp薬物と阻害剤の相互作用を変化させることが判明しました.
  • 野生型とポリモルフのP-gpは,mRNAとタンパク質のレベルが類似していた.
  • 変異したP-gp形状は,野生型とポリモルフィック型の変異体間で観察されました.

結論:

  • 同義語SNPは,コード配列の変更を超えたメカニズムを通じてタンパク質機能に影響を与えることができます.
  • 同義語SNPに関連した希少コドンの存在は,コトランスレーションの折りたたみと膜挿入に影響を与える可能性があります.
  • このプロセスは,タンパク質の形状の変化や基質/阻害剤の相互作用部位の変化につながり,薬剤の有効性や薬理学に影響を及ぼします.