The Allergy Gene

How a mutation in a skin protein revealed a link between eczema and asthma.

Greg Betza

It was a tense Friday afternoon in October 2005. Four of us in the lab had been working furiously that week in the fear that our results would be scooped at any moment. (It was an unfounded worry, but we had no way of knowing that at the time.) We had recently found the first mutation in a gene associated with a relatively common skin disease, but our results didn’t fully make sense, and we suspected there must be a second mutation hidden in this gene. A second mutation might explain the strange genetic patterns we had seen in affected families, and it also seemed to hint at a much bigger story.

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That may have been enough to start celebrating, but there was more riding on the finding...

1. F.J. Smith et al., “Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris,” Nat Genet, 38:337-42, 2006.
2. C.N. Palmer et al., “Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis,” Nat Genet, 38:441-46, 2006. F1000 ID 1011547, Free F1000 Evaluation
3. A. Sandilands et al., “Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema,” Nat Genet, 39:650-54, 2007. F1000 ID 1085751, Free F1000 Evaluation
4. P.G. Fallon, “A homozygous frameshift mutation in the mouse FLG gene facilitates enhanced percutaneous allergen priming,” Nat Genet, 41:602-08, 2009. F1000 ID 1927974, Free F1000 Evaluation
5. A. Sandilands et al., “Filaggrin in the frontline: role in skin barrier function and disease,” J Cell Sci, 122:1285-94, 2009.

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