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Cloning and Expression of a Novel Mutated Osteoprogerin/Osteoclastogenesis Inhibitory Factor Gene

Zhi-Yong He1, Guan-Zhen Yang, Wei-Jie Zhang

  • 1Shanghai Institute of Biochemistry, the Chinese Academy of Sciences, Shanghai 200031, China. xfwu@sunm.shcnc.ac.cn

Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao Acta Biochimica Et Biophysica Sinica
|July 12, 2002
PubMed

Insights

Researchers identified a mutated osteoprotegerin/osteoclastogenesis Inhibitory Factor (OPG/OCIF) gene in human liver cells. This mutated OPG/OCIF isoform was successfully expressed in yeast, offering potential for therapeutic applications.

Area of Science:

  • Molecular Biology
  • Biochemistry
  • Genetics

Background:

  • Osteoprotegerin/osteoclastogenesis Inhibitory Factor (OPG/OCIF) plays a crucial role in bone metabolism and regulation of osteoclastogenesis.
  • Understanding OPG/OCIF gene mutations is vital for investigating related diseases and developing targeted therapies.

Purpose of the Study:

  • To identify and characterize mutations in the OPG/OCIF gene in human liver cells.
  • To develop a method for high-level expression of the mutated OPG/OCIF isoform in a yeast system.

Main Methods:

  • Isolation of total RNA from human liver cell line L02.
  • RT-PCR amplification and sequencing of OPG/OCIF cDNA.
  • Cloning of the OPG/OCIF gene fragment into expression plasmids (pBS-sk and pPIC3.5K).
  • Transformation of Pichia pastoris GS115 and induction of protein expression.
  • SDS-PAGE analysis to assess protein expression levels and glycosylation.

Main Results:

  • A novel nonsense mutation (Ochre) was identified at Gln(394) in the OPG/OCIF cDNA from L02 cells.
  • The resulting OPG/OCIF isoform was 8 amino acid residues shorter at the C-terminus compared to the reported form.
  • Genomic DNA sequence analysis confirmed the mutation.
  • High-level expression of the mutated OPG/OCIF isoform was achieved in Pichia pastoris, accumulating to over 30% of soluble yeast protein.
  • Expression levels and glycosylation increased with longer induction periods.

Conclusions:

  • The study successfully identified and characterized a mutated OPG/OCIF gene in human liver cells.
  • A robust yeast expression system for the mutated OPG/OCIF isoform was established.
  • The findings provide a foundation for further research into the functional implications of this OPG/OCIF mutation and its potential therapeutic utility.

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