ADAR3 is a catalytically null enzyme and the most significant function of ADAR2 was found to be in editing on the neuron receptor GluR-B mRNA. Only three members of this protein family, ADAR 1-3, exist in mammalian cells. A-to-I RNA editing is carried out by a small group of enzymes, the adenosine deaminase acting on RNAs ( ADARs). RNA editing, particularly A-to-I RNA editing, has been shown to play an essential role in mammalian embryonic development and tissue homeostasis, and is implicated in the pathogenesis of many diseases including skin pigmentation disorder, autoimmune and inflammatory tissue injury, neuron degeneration, and various malignancies. Wang, Qingde Li, Xiaoni Qi, Ruofan Billiar, Timothy
RNA Editing, ADAR 1, and the Innate Immune Response. To date, a total of 110 mutations in the ADAR 1 gene have been reported, and 10 of them were recurrent the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH.
By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. We performed a mutation analysis of the ADAR 1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR 1 mutations reported since 2003 by using PubMed. We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA 1 ( ADAR 1) gene in these 2 pedigrees. Zhang, G L Shi, H J Shao, M H Li, M Mu, H J Gu, Y Du, X F Xie, P Mutations in the ADAR 1 gene in Chinese families with dyschromatosis symmetrica hereditaria.
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