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A novel isoform of human membrane cofactor protein (CD46) mRNA generated by intron retention

A J Pollard1, B F Flanagan, D J Newton

  • 1Department of Immunology, University of Liverpool, UK.

Gene
|May 29, 1998
PubMed

Insights

Researchers discovered a novel, truncated membrane cofactor protein (MCP; CD46) isoform in human immune cells. This isoform results from intron retention, potentially affecting protein function and cellular localization.

Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • Membrane cofactor protein (MCP; CD46) is a key regulator of the complement system.
  • MCP plays a crucial role in immune cell function and immune response modulation.
  • Understanding MCP mRNA expression is vital for comprehending complement regulation.

Purpose of the Study:

  • To investigate MCP mRNA transcript expression in peripheral blood mononuclear cells (PBMC).
  • To identify and characterize novel MCP mRNA transcripts and their encoded protein isoforms.
  • To elucidate the molecular mechanisms underlying alternative splicing or intron retention in MCP gene expression.

Main Methods:

  • Reverse transcription polymerase chain reaction (RT-PCR) using primers specific for all 14 exons of human MCP.
  • RT-PCR analysis with primers flanking exon 7 and across introns 6 and 7.
  • Genomic DNA and cDNA comparison via PCR and sequence analysis.
  • Southern and Northern blotting utilizing an intron 6-specific probe.

Main Results:

  • A novel, larger-than-predicted MCP mRNA transcript was consistently detected in PBMC.
  • This transcript contains additional sequences 5' and 3' to exon 7, including the complete sequences of intron 6 and intron 7.
  • Confirmation of intron 6 retention in a 4.8-kb mRNA transcript in human PBMC.
  • Sequence analysis revealed a stop codon within intron 6, leading to a truncated MCP isoform (MCPi).

Conclusions:

  • A novel MCP isoform (MCPi) is generated through intron 6 retention in human PBMC.
  • MCPi contains the four invariant short consensus repeat (SCR) regions and a unique C-terminal tail.
  • The unique C-terminal region of MCPi may promote endoplasmic reticulum retention, suggesting altered protein localization and function.

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