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Updated: Jan 6, 2026

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RNA スプライシングと表遺伝的調節の調整された変化が白血病発生を誘発する

Akihide Yoshimi1, Kuan-Ting Lin2, Daniel H Wiseman3,4

  • 1Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Nature
|October 4, 2019
PubMed
まとめ

IDH2とSRSF2の変異は,エピジェネティクスとRNAスプライシングを変化させることで,急性骨髄性白血病を誘発する. この研究は,スプライシングファクターの変異が 骨髄性悪性腫瘍を誘発する最初の機能的証拠を提供する.

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Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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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.
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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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