Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.
Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene.
Miyamura
Yoshinori
Y
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Suzuki
Tamio
T
Kono
Michihiro
M
Inagaki
Katsuhiko
K
Ito
Shiro
S
Suzuki
Noriyuki
N
Tomita
Yasushi
Y
D000243:Adenosine Deaminase / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D005260:Female; D005528:Foot; D006225:Hand; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000201:enzymology* / Q000235:genetics; D016601:RNA-Binding Proteins
D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase