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Related Experiment Videos

Human myosin XVBP is a transcribed pseudogene.

E T Boger1, J R Sellers, T B Friedman

  • 1Laboratory of Molecular Genetics, Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

Journal of Muscle Research and Cell Motility
|April 20, 2002
PubMed
Summary
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A novel human myosin gene, myosin XVBP, was identified but found to be a pseudogene. Analysis revealed significant disabling mutations, indicating it is transcribed but not functional.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Genomics

Background:

  • A novel human myosin gene, designated myosin XVBP, was identified at chromosomal location 17q25.
  • This gene appears to be a result of a genomic duplication event, sharing ancestry with the Lethal Giant Larvae 2 (LLGL2) gene.

Purpose of the Study:

  • To characterize the novel human myosin XVBP gene.
  • To determine the functional status of the myosin XVBP gene and its potential role.

Main Methods:

  • Genomic DNA sequence evaluation and analysis.
  • Prediction of amino acid sequence from genomic DNA.
  • Cloning and sequencing of overlapping cDNAs from kidney and stomach mRNA.
  • Bioinformatic analysis of sequence data for mutations and disablements.

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Main Results:

  • Myosin XVBP exhibits significant alterations in its motor domain, with 36 of 131 conserved residues substituted or deleted.
  • Sequence changes affect regions critical for ATP and actin binding.
  • Analysis of cloned cDNAs revealed numerous disablements, including frameshifts and premature stop codons.
  • Myosin XVBP is transcribed but contains multiple inactivating mutations.

Conclusions:

  • The human myosin XVBP gene is a pseudogene.
  • Despite being transcribed, myosin XVBP is functionally inactive due to extensive disabling mutations.
  • The findings contribute to understanding gene evolution and pseudogene formation.