A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Genetics and Molecular Research

Volumn 11, Issue 2, 2012, Pages 1731-1737

  Lai, M L ^a   Yang, L J ^a   Zhu, X H ^a   Li, M ^b  

^a WUXI NO 2 PEOPLE S HOSPITAL   (China)

^b XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

DSRAD gene; Dyschromatosis symmetrica hereditaria (DSH); Mutation analysis

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; DOUBLE STRANDED RNA SPECIFIC ADENOSINE DEAMINASE GENE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; GENE SEQUENCE; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN DISEASE;

EID: 84930472332     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2012.June.29.5     Document Type: Article

References (16)

1. Alfadley A, Al AA, Hainau B, Pedersen KT, et al. (2000). Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J. Am. Acad. Dermatol. 43: 113-117.
2. Cho DS, Yang W, Lee JT, Shiekhattar R, et al. (2003). Requirement of dimerization for RNA editing activity of adenosine deaminases acting on RNA. J. Biol. Chem. 278: 17093-17102.
3. Liu Q, Jiang L, Liu WL, Kang XJ, et al. (2006). Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br. J. Dermatol. 154: 636-642.
4. Miyamura Y, Suzuki T, Kono M, Inagaki K, et al. (2003). Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am. J. Hum. Genet. 73: 693-699.
5. Murata I, Hayashi M, Hozumi Y, Fujii K, et al. (2010). Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene. J. Dermatol. Sci. 58: 218-220.
6. O'Connell MA, Krause S, Higuchi M, Hsuan JJ, et al. (1995). Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol. Cell Biol. 15: 1389-1397.
7. Oiso N, Murata I, Hayashi M, Amatsu A, et al. (2011). Dermoscopic features in a case of dyschromatosis symmetrica hereditaria. J. Dermatol. 38: 91-93.
8. Ostlere LS, Ratnavel RC, Lawlor F, Black MM, et al. (1995). Reticulate acropigmentation of Dohi. Clin. Exp. Dermatol. 20: 477-479.
9. Oyama M, Shimizu H, Ohata Y, Tajima S, et al. (1999). Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br. J. Dermatol. 140: 491-496.
10. Rueter SM, Dawson TR and Emeson RB (1999). Regulation of alternative splicing by RNA editing. Nature 399: 75-80.
11. Schade M, Turner CJ, Kuhne R, Schmieder P, et al. (1999). The solution structure of the Zalpha domain of the human RNA editing enzyme ADAR1 reveals a prepositioned binding surface for Z-DNA. Proc. Natl. Acad. Sci. U. S. A. 96: 12465-12470.
12. Sun XK, Xu AE, Chen JF and Tang X (2005). The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. Br. J. Dermatol. 153: 342-345.
13. Suzuki N, Suzuki T, Inagaki K, Ito S, et al. (2005). Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J. Invest. Dermatol. 124: 1186-1192.
14. Urabe K and Hori Y (1997). Dyschromatosis. Semin. Cutan. Med. Surg. 16: 81-85.
15. Wagner RW, Smith JE, Cooperman BS and Nishikura K (1989). A double-stranded RNA unwinding activity introduces structural alterations by means of adenosine to inosine conversions in mammalian cells and Xenopus eggs. Proc. Natl. Acad. Sci. U. S. A. 86: 2647-2651.
16. Zhang XJ, Gao M, Li M, Li M, et al. (2003). Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J. Invest. Dermatol. 120: 776-780.