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Expression of proto-oncogene c-kit receptor in rats (Rattus norvegicus) and identification of a mutant mRNA

Supriya Gangadharan Prasanth1, Sher Ali

  • 1Molecular Genetics Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067 India.

DNA and Cell Biology
|August 23, 2003
PubMed

Insights

Mutations in the c-kit gene

Area of Science:

  • Molecular Biology
  • Reproductive Biology
  • Oncology

Background:

  • The c-kit receptor proto-oncogene is crucial for cell proliferation and differentiation.
  • Its role in germ cell development is established but not fully understood.

Purpose of the Study:

  • To investigate c-kit expression and mutations in fertile and infertile rats.
  • To elucidate the mechanisms linking c-kit to spermatogenic failure.

Main Methods:

  • Reverse Transcription Polymerase Chain Reaction (RT-PCR) for gene expression analysis.
  • Gene amplification, cloning, and sequencing of c-kit transcripts.
  • Genomic DNA mutation analysis and protein expression studies.
  • Histological examination of testicular tissues.

Main Results:

  • Identified two c-kit transcripts (352-bp and 276-bp) with varying expression levels in infertile rats.
  • Detected mutational hotspots in the 352-bp testis transcript in infertile rats.
  • Observed mutations exclusively in testicular genomic DNA, indicating a postzygotic event.
  • Found absence of c-kit kinase domain and soluble protein, alongside stem cell depletion in infertile testes.

Conclusions:

  • The 352-bp mutant c-kit mRNA transcript is implicated in spermatogenic failure.
  • Mutations in c-kit may lead to stem cell depletion and reduced germ cell numbers.
  • c-kit plays a critical role in maintaining male fertility.

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