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Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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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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Related Experiment Video

Updated: Jun 2, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Splice site mutations in the ATP7A gene.

Tina Skjørringe1, Zeynep Tümer, Lisbeth Birk Møller

  • 1Department of Applied Functional Human Genetics, The Kennedy Center, Glostrup, Denmark.

Plos One
|April 16, 2011
PubMed
Summary

Menkes disease (MD) and Occipital Horn Syndrome are linked to ATP7A gene mutations. Novel splice site mutations were identified, with in silico predictions correlating with in vivo results regarding disease severity.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Menkes disease (MD) and Occipital Horn Syndrome (OHS) are rare genetic disorders.
  • These conditions result from mutations in the ATP7A gene, affecting copper transport.
  • Splice site mutations are a significant cause of these allelic disorders.

Purpose of the Study:

  • To identify and characterize novel splice site mutations in the ATP7A gene.
  • To investigate the in vivo effects of these mutations on mRNA transcripts.
  • To correlate in silico predictions of splicing effects with observed clinical phenotypes.

Main Methods:

  • Mutation screening in patients with MD and OHS.
  • In silico analysis using the Human Splice Finder tool.

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  • In vivo analysis of mRNA transcripts from patient samples.

    • Main Results:

    • 33 novel splice site mutations were identified in ATP7A.
    • In silico predictions accurately reflected in vivo splicing defects for most mutations.
    • Classical MD patients predominantly showed significant splicing effects and absence of wild-type transcript.
    • Milder phenotypes (OHS) often had mutations with no significant predicted splicing effect and retained wild-type transcript.

    Conclusions:

    • The presence of wild-type ATP7A transcript correlates with milder phenotypes in MD and OHS.
    • In silico tools like Human Splice Finder are valuable for predicting the functional impact of splice site mutations.
    • Understanding genotype-phenotype correlations aids in diagnosing and managing Menkes disease and Occipital Horn Syndrome.