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Related Experiment Videos

Functional analysis of alternatively spliced tyrosinase gene transcripts.

G Müller1, S Ruppert, E Schmid

  • 1Institute of Cell and Tumor Biology, German Cancer Research Centre, Heidelberg.

The EMBO Journal
|September 1, 1988
PubMed
Summary

Researchers identified mouse tyrosinase gene variants through alternative splicing. Only one variant, pmcTyr1, restored tyrosinase enzyme activity, suggesting mutations in this gene cause albinism in mice.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Alternative splicing of the primary transcript generates diverse mRNAs from a single gene.
  • The tyrosinase gene plays a crucial role in pigmentation.
  • Understanding gene variants is key to deciphering genetic disorders like albinism.

Purpose of the Study:

  • To identify and characterize cDNA clones of the mouse tyrosinase gene arising from alternative splicing.
  • To functionally assess the enzymatic activity conferred by these cDNA clones.
  • To investigate the role of the tyrosinase gene in mouse albinism.

Main Methods:

  • Sequence analysis of cDNA clones (pmcTyr1, pmcTyr2, pmcTyr3).
  • Subcloning into an expression vector (pHD) and electroporation into tyrosinase-negative cells.

Related Experiment Videos

  • Functional assay measuring tyrosinase enzyme activity in protein extracts.

    • Main Results:

    • Three distinct cDNA clones were identified, representing alternatively spliced mRNAs of the mouse tyrosinase gene.
    • Only the pmcTyr1 cDNA clone conferred tyrosinase enzyme activity upon expression in tyrosinase-negative cells.
    • The pmcTyr1 cDNA encodes a 533-amino acid protein with conserved regions, including a copper-binding domain, homologous to other tyrosinases and haemocyanins.
    • The tyrosinase gene is absent in lethal deletion mutants at the c-locus in mice.

    Conclusions:

    • The pmcTyr1 clone represents a functional tyrosinase mRNA.
    • Mutations in the mouse tyrosinase gene are the cause of albinism in mice.
    • The conserved regions suggest functional importance, potentially related to copper binding for enzymatic activity.