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Related Concept Videos

RNA Splicing01:32

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...
RNA Splicing01:32

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...
Alternative RNA Splicing02:18

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Novel splice site CACNA1A mutation causing episodic ataxia type 2.

M A Kaunisto1, H Harno, M Kallela

  • 1Biomedicum Helsinki, Molecular Medicine Research Program, University of Helsinki, Helsinki, Finland.

Neurogenetics
|October 8, 2003
PubMed
Summary

Episodic ataxia type 2 (EA-2), a neurological disorder, is linked to CACNA1A gene mutations. A novel splice site mutation was identified in a family, expanding the known mutation spectrum for EA-2.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder.
  • Symptoms include ataxia, vertigo, nausea, nystagmus, and fatigue, often responsive to acetazolamide.
  • EA-2 is associated with mutations in the CACNA1A gene encoding the P/Q-type calcium channel alpha-1A subunit.

Purpose of the Study:

  • To investigate the genetic cause of EA-2 in a large family.
  • To identify novel mutations in the CACNA1A gene associated with EA-2.

Main Methods:

  • Family-based linkage analysis to the chromosome 19p13.2 locus.
  • DNA sequencing of the CACNA1A gene to identify mutations.

Main Results:

  • A two-point maximum LOD score of 4.48 was achieved, confirming linkage to the CACNA1A locus.
  • A novel CACNA1A mutation, IVS36-2A>G, was identified at the 3' acceptor splice site of intron 36.
  • This represents the first described CACNA1A acceptor splice site mutation and the most C-terminal EA-2 mutation found to date.

Conclusions:

  • The identified IVS36-2A>G mutation in CACNA1A is the likely cause of EA-2 in this family.
  • This finding expands the spectrum of known EA-2-causing mutations and highlights the importance of splice site mutations.