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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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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. 
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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.

Paras A Patel1, Leslie E W LaConte1,2, Chen Liang1

  • 1Fralin Biomedical Research Institute at VTC, Roanoke, Virginia, USA.

Journal of Medical Genetics
|April 26, 2024
PubMed
Summary

CASK deficiency primarily impacts the cerebellum, causing degeneration and ataxia. Novel vertebrate-specific functions of CASK also play a role in the mammalian forebrain, suggesting ancient and new roles for this gene.

Keywords:
Biological EvolutionGenetic Diseases, InbornGenetic Diseases, X-LinkedGenetics, MedicalHuman Genetics

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Pontocerebellar hypoplasia (PCH) can involve supratentorial phenotypes and microcephaly.
  • X-linked CASK gene mutations cause microcephaly with PCH in females, often lethal in males.
  • CASK deficiency leads to cerebellar granule cell degeneration, with its broader brain role unclear.

Purpose of the Study:

  • To investigate the function of CASK in the brain, particularly its role beyond the cerebellum.
  • To explore the impact of CASK mutations and alternative splicing on its structure and function.

Main Methods:

  • Generated conditional CASK knockout mice with postnatal deletion.
  • Examined clinical features of individuals with CASK mutations.
  • Performed phylogenetic and RT-PCR analyses of CASK splicing.
  • Conducted in silico structural analysis of CASK.

Main Results:

  • Postnatal CASK deletion in mice caused cerebellar degeneration and ataxia.
  • Hemizygous CASK mutations in boys led to microcephaly and cerebral dysfunction without PCH.
  • Vertebrate-specific CASK exons undergo alternative splicing, affecting the C-terminus structure and function.

Conclusions:

  • CASK loss disproportionately affects the cerebellum.
  • Clinical data suggest CASK has vertebrate-specific functions in the mammalian forebrain.
  • CASK possesses both ancient conserved and novel vertebrate-specific functions.