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Bioinformatics Vol. 19 no. 17 2003
pages 2171-2175
© 2003 Oxford University Press

Discovery Note

Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence

Mario Albrecht 1,*, Thomas Lengauer 1 and Stefan Schreiber 2

1 Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbrücken, Germany and 2 First Department of Medicine, Christian-Albrechts-Universität Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany

Received on February 5, 2003 ; accepted on May 7, 2003

Sequence variations in the gene products PYPAF1/CIAS1 and NOD2/CARD15 have been associated with several autoinflammatory diseases that, although clinically different, share a similar inflammatory pathophysiology. A multiple sequence alignment of homologous proteins demonstrates that some of the missense variants are located in highly conserved regions of the NTPase domain and possibly impair NTP-hydrolysis. Intriguingly, one of the variations, which is found identically in PYPAF1 and NOD2, is located at the same alignment position. Our findings suggest that evolutionary gene duplication can give rise to disease families because variants affect conserved sequence in a similar fashion.

Contact: mario.albrecht{at}mpi-sb.mpg.de

* To whom correspondence should be addressed.


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