Mutation of DNASE1 in people with systemic lupus erythematosus

Citation
K. Yasutomo et al., Mutation of DNASE1 in people with systemic lupus erythematosus, NAT GENET, 28(4), 2001, pp. 313-314
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
1061-4036 → ACNP
Volume
28
Issue
4
Year of publication
2001
Pages
313 - 314
Database
ISI
SICI code
1061-4036(200108)28:4<313:MODIPW>2.0.ZU;2-N
Abstract
Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune d iseases that causes progressive glomerulonephritis, arthritis and an erythe matoid rash(1,2). Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome(3). Here we describe two patients with a heterozygous no nsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extre mely high immunoglobulin G titer against nucleosomal antigens. These data a re consistent with the hypothesis that a direct connection exists between l ow activity of DNASE1 and progression of human SLE.