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Pseudoautosomal genes in man.

P J Goodfellow1, S Darling, G Banting

  • 1Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, UK.

Development (Cambridge, England)
|January 1, 1987
PubMed
Summary
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Researchers identified the MIC2 gene, encoding the 12E7 antigen, and its role in pseudoautosomal regions. This study suggests MIC2 escapes X-inactivation and hints at a second pseudoautosomal gene.

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Immunology

Background:

  • The MIC2 gene, encoding the 12E7 antigen, is the sole well-characterized pseudoautosomal gene in humans.
  • Pseudoautosomal regions are crucial for proper sex chromosome pairing and recombination during meiosis.

Purpose of the Study:

  • To molecularly characterize the MIC2 gene and its encoded 12E7 antigen.
  • To investigate the genetic and biochemical properties of the MIC2 system.
  • To explore the potential existence of additional pseudoautosomal genes.

Main Methods:

  • Isolation of cDNA and genomic sequences for MIC2.
  • Production of monoclonal antibodies against the 12E7 antigen.
  • Genetic mapping and analysis of gene regulation (X-inactivation).

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Main Results:

  • MIC2 is confirmed as the most proximal pseudoautosomal marker.
  • The escape of MIC2 from X-inactivation is linked to an HTF island at its 5' end.
  • Evidence suggests the existence of a second pseudoautosomal gene, distinct from MIC2 and XG locus.

Conclusions:

  • MIC2 plays a significant role in pseudoautosomal gene regulation and inheritance.
  • The findings provide a foundation for understanding pseudoautosomal gene function and evolution.
  • The study postulates the existence of a novel pseudoautosomal gene in the human genome.