Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)

被引：18

作者：

Goulielmos, G. N. ^{[1
]}

Fragouli, E.

Aksentijevich, I.

Sidiropoulos, P.

Boumpas, D. T.

Eliopoulos, E.

机构：

[1] Univ Crete, Dept Internal Med, Iraklion, Crete, Greece

[2] NIAMSD, Genet Sect, Arthritis & Rheumatism Branch, Bethesda, MD 20892 USA

[3] Univ Hosp Heraklion, Dept Rheumatol Clin Immunol & Allergy, Iraklion, Crete, Greece

[4] Agr Univ Athens, Dept Agr Biotechnol, Genet Lab, Athens, Greece

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2006年 / 345卷 / 04期

关键词：

familial Mediterranean fever (FMF); pyrin; MEFV; mutational analysis; three-dimensional model (3-D model);

D O I：

10.1016/j.bbrc.2006.04.185

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, characterized by recurrent fever and serositis that affects mainly patients of the Mediterranean basin. The gene responsible for FMF, named MEFV, was cloned and several missense mutations were found to be responsible for the disease. Based on a recent molecular analysis of MEFV gene mutations in 43 patients from Crete aiming to correlate specific genotypes and clinical manifestations of FMF, we were prompted to construct a three-dimensional model (3-D model) of the PRYSPRY domain of pyrin. The majority of the known MEFV mutations located on this domain have been classified, according to disease severity, and localized on this 3-D model. The functional consequences of these mutations and their implications on disease severity are discussed. Moreover, we report a putative novel missense mutation, S702C, which we identified in exon 10 of the MEFV gene and localized on the constructed 3-D model. (c) 2006 Elsevier Inc. All rights reserved.

引用

页码：1326 / 1332

页数：7