Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

Abstract

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.

• Authors: Yoshinori Miyamura, Tamio Suzuki, Michihiro Kono, Katsuhiko Inagaki, Shiro Ito, Noriyuki Suzuki, Yasushi Tomita
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 73 Issue 3 Pg. 693-9 (Sep 2003) ISSN: 0002-9297 [Print] United States
• PMID: 12916015 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• RNA-Binding Proteins
• ADARB1 protein, human
• Adenosine Deaminase

Topics

• Adenosine Deaminase (genetics)
• Amino Acid Sequence
• Animals
• Female
• Foot
• Hand
• Haplotypes
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Pedigree
• Pigmentation Disorders (enzymology, genetics)
• RNA-Binding Proteins