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Related Concept Videos

RNA Splicing01:32

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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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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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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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RNA-Binding Proteins: Splicing Factors and Disease.

Alger M Fredericks1, Kamil J Cygan2,3, Brian A Brown4

  • 1Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USA. alger_fredericks@brown.edu.

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|May 19, 2015
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Summary

Pre-mRNA splicing, essential for gene expression, is frequently disrupted in hereditary diseases. Understanding splicing mutations is key to diagnosing genetic disorders and developing new therapies.

Keywords:
RNA-binding proteinsmotifsplicing

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Pre-messenger RNA (mRNA) splicing is a critical post-transcriptional modification process in eukaryotes, orchestrated by the spliceosome and accessory proteins.
  • Splicing errors are implicated in a significant portion of human hereditary diseases, affecting gene regulation and protein function.
  • Identifying disease-causing genetic variants that disrupt splicing remains a challenge in clinical genetics.

Purpose of the Study:

  • To review the fundamental biochemistry of pre-mRNA splicing.
  • To elucidate the mechanisms by which splicing mutations lead to human diseases.
  • To discuss current methods for identifying splicing defects and explore potential therapeutic strategies.

Main Methods:

  • Review of existing literature on spliceosome function and splicing regulation.
  • Analysis of documented mechanisms of splicing mutations in hereditary diseases.
  • Discussion of bioinformatic and experimental approaches for splicing variant detection.
  • Exploration of emerging therapeutic interventions targeting splicing defects.

Main Results:

  • Splicing is a highly regulated process involving intricate molecular interactions.
  • Hereditary alleles can cause aberrant splicing by altering cis-elements, generating toxic RNAs, or affecting splicing factors.
  • Numerous methods exist for identifying splicing mutations, ranging from computational predictions to functional assays.
  • Therapeutic strategies targeting splicing offer potential for treating genetic disorders.

Conclusions:

  • Aberrant splicing is a major contributor to human genetic diseases, necessitating improved diagnostic and therapeutic approaches.
  • A comprehensive understanding of splicing mechanisms and mutation types is crucial for advancing medical genetics.
  • Future research should focus on refining methods for variant identification and developing effective splicing-based therapies.