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Updated: Jun 12, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Published on: October 9, 2014

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由异常拼接引起的CLN6相关的连续表型

Federica Invernizzi1, Barbara Castellotti1, Chiara Reale1

  • 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Epilepsia open
|December 24, 2024
PubMed
概括

神经神经状脂症 (NCLs) 是一种神经退行性疾病. 这项研究详细介绍了一名患有CLN6疾病的患者,表现出独特的遗传特征,表明婴儿和成人形式之间的连续性.

关键词:
库夫斯病就是这种疾病.神经神经元的ceroidlipofuscinosis可能会发生.在部发作发作.摄影氧系统反应反应.渐进性的肌肉细胞发作.

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RNA Splicing

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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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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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.
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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