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Related Experiment Videos

Mapping genes for asthma and psoriasis.

Juha Kere1

  • 1Department of Biosciences at Novum, Karolinska Institutet, 14157 Huddinge, Sweden.

Novartis Foundation Symposium
|July 8, 2005
PubMed
Summary

Identifying susceptibility genes for complex diseases like asthma and psoriasis is challenging due to reduced penetrance. This study explores positional cloning strategies and functional studies for GPRA and HCR genes.

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Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Complex diseases involve susceptibility genes with reduced penetrance.
  • Positional cloning strategies and statistical methods are crucial for identifying these genes.
  • Identifying effector genes within implicated loci presents significant challenges.

Purpose of the Study:

  • To demonstrate the challenges of positional cloning using two examples: GPRA for asthma/atopy and HCR for psoriasis.
  • To investigate the role of GPRA in asthma and atopy through expression studies.
  • To examine the function of HCR in psoriasis using a mouse model.

Main Methods:

  • Positional cloning strategies and statistical methods.
  • Isoform-specific expression analysis of GPRA in human tissues and a mouse model of allergic hypersensitivity.
  • Generation of transgenic mice with specific HCR alleles to study gene expression in skin.

Main Results:

  • GPRA's role in asthma and atopy was investigated via expression studies.
  • Overexpression of HCR in mouse skin did not induce a psoriasiform phenotype.
  • HCR expression in transgenic mice showed allele-specific changes similar to psoriatic skin.

Conclusions:

  • Positional cloning of susceptibility genes requires robust functional studies.
  • While HCR overexpression alone is insufficient for psoriasis, it influences allele-specific gene expression.
  • These findings highlight the complexities in linking genetic loci to complex disease phenotypes.

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