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

被引：16

作者：

Albrecht, M

Lengauer, T

Schreiber, S

机构：

[1] Max Planck Inst Informat, D-66123 Saarbrucken, Germany

[2] Univ Kiel, Dept Med 2, D-24105 Kiel, Germany

来源：

BIOINFORMATICS | 2003年 / 19卷 / 17期

关键词：

D O I：

10.1093/bioinformatics/btg370

中图分类号：

Q5 [生物化学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

Sequence variations in the gene products PYPAF1/CIAS1 and NOD2/CARD15 have been associated with several auto-inflammatory 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.

引用

页码：2171 / 2175

页数：5

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