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To identify genes that predispose to systemic lupus erythematosus (SLE), investigators made use of the high frequency of consanguinity in Saudi Arabia to search for autosomal recessive patterns of SLE inheritance.
The researchers identified seven families with at least two affected siblings and consanguineous parents. In six families, a mutation in DNASE1L3 (the deoxyribonuclease I-like 3 gene) segregated significantly with SLE. The DNASE1L3 protein digests single-stranded and double-stranded DNA and is expressed in liver and spleen macrophages; the 1-bp deletion results in either an unstable transcript or a protein with no activity. All affected individuals had childhood onset and serology showing positive antinuclear antibodies and low lev…