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Human IRGM gene "to be or not to be"
Cemaletin Bekpen1, Ramnik J Xavier, Evan E Eichler
1Department of Genome Sciences, University of Washington, Seattle, WA, USA. bekpen@u.washington.edu
Seminars in Immunopathology
|August 26, 2010
Summary
The human IRGM gene, crucial for autophagy and fighting intracellular pathogens like Mycobacterium tuberculosis, has a unique evolutionary history. Its variants are linked to Crohn
Area of Science:
- Genetics and Evolutionary Biology
- Immunology
- Molecular Biology
Background:
- Immunity-related GTPases (IRG proteins) are vital for early resistance against intracellular pathogens.
- The IRG gene family, expanded in mice, is significantly reduced in humans to IRGC and IRGM.
- Human IRGM is implicated in autophagy-mediated destruction of bacteria like Mycobacterium tuberculosis and Salmonella typhimurium.
Purpose of the Study:
- To review evidence on the evolutionary history of the human IRGM locus.
- To detail the role of the IRGM gene in autophagy and its connection to Crohn's disease pathogenesis.
Main Methods:
- Review of studies on human samples.
- In vitro experimental analyses.
- Sequence analysis of the IRGM locus.
Main Results:
- The human IRGM gene exhibits an unusual evolutionary trajectory compared to its mouse counterparts.
- Variant IRGM haplotypes are associated with an increased risk of Crohn's disease.
- Differential expression of IRGM transcripts correlates with disease risk.
Conclusions:
- The IRGM gene plays a significant role in host defense via autophagy.
- Evolutionary changes in the IRGM locus contribute to its function in immunity and disease.
- IRGM is a key factor in understanding Crohn's disease pathogenesis.
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