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関連する概念動画

Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
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pre-mRNA Processing02:01

pre-mRNA Processing

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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl...
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Updated: Jan 23, 2026

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新規MYL1イントロンバリアントと拡大した表現型

Maria Barington1, Marie Balslev-Harder1, Thomas Krag2

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

American journal of medical genetics. Part A
|January 22, 2026
PubMed
まとめ

先天性筋症14型(CMYO14)は、重度の筋緊張低下と呼吸器系の問題を抱える新生児で特定されたまれな遺伝性疾患です。この症例は、CMYO14の既知の遺伝的原因を拡大する新規MYL1遺伝子内イントロンバリアントを強調しています。

キーワード:
MYL1CMYO14RNA異常スプライシング先天性筋症14型イントロンバリアント

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科学分野:

  • 遺伝学
  • 分子生物学
  • 神経学

背景:

  • 先天性筋症14型(CMYO14)は、超まれな常染色体劣性疾患です。
  • 以前に報告された患者は4人だけで、MYL1遺伝子の二アレルバリアントによって引き起こされます。
  • この病状は、重度の筋緊張低下、呼吸不全、および骨格異常を特徴とします。

主な方法:

  • MYL1遺伝子内のバリアントを同定するための遺伝子解析。
  • スプライシングを評価するための患者筋組織のRNA解析。
  • 同定されたバリアントの影響を評価するためのインシリコスプライス予測。

結論:

  • この症例は、CMYO14の5番目に報告された患者を表します。
  • この発見は、MYL1関連疾患の遺伝子型および表現型のスペクトルを広げます。
  • イントロンバリアントとそのスプライシングへの影響は、CMYO14の診断に不可欠であり、インシリコおよび機能的RNA解析の統合の有用性を強調しています。