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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Alternative RNA Splicing

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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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R stands for...

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Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.

Daniel Flint1, Rong Li, Lital S Webster

  • 1Department of Neurobiology and the Civitan International Research Center, Center for Glial Biology in Medicine, Evelyn F. McKnight Brain Institute, University of Alabama at Birmingham, AL 35294, USA.

Human Mutation
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Summary

Alexander disease (AxD) research reveals new insights into glial fibrillary acidic protein (GFAP) mutations. Findings suggest including intronic regions in genetic testing and highlight that even small GFAP alterations can cause disease.

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Alexander disease (AxD) is a fatal astrogliopathy.
  • Mutations in the glial fibrillary acidic protein (GFAP) gene are the primary cause.
  • GFAP is an intermediate filament protein crucial for astrocyte function.

Observation:

  • Three patients with unique GFAP mutations were studied.
  • Patient 1 presented with a noncoding splice site mutation affecting exon 4.
  • Patient 2 exhibited an insertion-deletion mutation at the coding region's end, revealing chimerism (mutation in buccal but not blood DNA).
  • Patient 3 had a C-terminal single-base deletion causing a frameshift.

Findings:

  • A noncoding mutation can lead to Alexander disease.
  • Even a small fraction of altered GFAP can cause disease.
  • Chimerism can occur in Alexander disease patients.

Implications:

  • Genetic testing for AxD should include intronic splice site regions.
  • C-terminal tagging of intermediate filaments for research may require caution.
  • Understanding diverse GFAP mutations aids AxD diagnosis and pathogenesis studies.