A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria

Dermatology

Volumn 213, Issue 3, 2006, Pages 200-203

  Liu, Yan ^a   Xiao, Shengxiang ^a   Peng, Zhenhui ^a   Chu, Yonglie ^a   Wang, Junmin ^a   Li, Xiaoli ^a   Zhou, Shaona ^a  

^a XI'AN JIAOTONG UNIVERSITY   (China)

Author keywords

Double stranded RNA specific adenosine deaminase (DSRAD); Dyschromatosis symmetrica hereditaria; Missense mutation; Mutation analysis

Indexed keywords

ADENOSINE DEAMINASE; DOUBLE STRANDED RNA; DOUBLE STRANDED RNA ADENOSINE DEAMINASE; GUANINE; THYMINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHINESE; CONTROLLED STUDY; DOUBLE STRANDED RNA SPECIFIC ADENOSINE DEAMINASE GENE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GENODERMATOSIS; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPOPIGMENTATION; MALE; MISSENSE MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENOSINE DEAMINASE; ADULT; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PIGMENTATION; PIGMENTATION DISORDERS; POLYMERASE CHAIN REACTION;

EID: 33749998299     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095036     Document Type: Article

References (23)

1. Oyama M, Shimizu H, Ohata Y, Tajima S, Nishikawa T: 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 1999;140:491-496.
2. He PP, He CD, Cui Y, Yang S, Xu HH, Li M, Yuan WT, Gao M, Liang YH, Li CR, Xu SJ, Chen JJ, Chen HD, Huang W, Zhang XJ: Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China. Br J Dermatol 2004;150:633-639.
3. Zhang XJ, Gao M, Li M, Li M, Li CR, Cui Y, He PP, Xu SJ, Xiong XY, Wang ZX, Yuan WT, Yang S, Huang W: Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 2003;120:776-780.
4. Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y: Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003;73:693-699.
5. Zhang XJ, He PP, Li M, He CD, Yan KL, Cui Y, Yang S, Zhang KY, Gao M, Chen JJ, Li CR, Jin L, Chen HD, Xu SJ, Huang W: Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat 2004;23:629-630.
6. Liu Q, Liu WL, Li J, Sun M, Ao Y, Zhao X, Song Y, Luo Y, Lo WH, Zhang X: Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2004;122:896-899.
7. Li M, Jiang YX, Liu JB, Yang S, He PP, Gao M, Wei SC, Yan KL, Huang W, Zhang XJ: A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 2004;29:533-535.
8. Yang Y, Li S, Li H, Bu DF, Wang K, Tu P, Zhu XJ: DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria. Beijing Da Xue Xue Bao 2004;36:466-468
9. Li CR, Li M, Ma HJ, Luo D, Yang LJ, Wang DG, Zhu XH, Yue XZ, Chen WQ, Zhu WY: A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Dermatol Sci 2005;37:95-99.
10. Gao M, Wang PG, Yang S, Hu XL, Zhang KY, Zhu YG, Ren YQ, Du WH, Zhang GL, Cui Y, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ: Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. Arch Dermatol 2005;141:193-196.
11. Cui Y, Wang J, Yang S, Gao M, Chen JJ, Yan KL, Xiao FL, Huang W, Zhang XJ: Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2005;296:543-545.
12. Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Fukai K, Takama H, Sato K, Ishikawa O, Abe M, Shimizu H, Kawai M, Horikawa T, Yoshida K, Matsumoto K, Terui T, Tsujioka K, Tomita Y: Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J Invest Dermatol 2005;124:1186-1192.
13. Sun XK, Xu AE, Chen JF, Tang X: The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. Br J Dermatol 2005;153:342-345.
14. Li M, Li C, Hua H, Zhu W, Lu Y, Yang L: Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2005;297:196-200.
15. Chao SC, Lee JY, Sheu HM, Yang MH: A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria. Br J Dermatol 2005;153:1064-1066.
16. Toyama I: Dyschromatosis symmetrica hereditaria. Jpn J Dermatol Urol 1929;29:95-96.
17. Urabe K, Hori Y: Dyschromatosis. Semin Cutan Med Surg 1997;16:81-85.
18. Alfadley A, Al Ajlan A, Hainau B, Pedersen KT, Al Hoqail I: Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J Am Acad Dermatol 2000;43:113-117.
19. Bass BL, Weintraub H: A developmental regulated activity that unwinds RNA duplexes. Cell 1987;48:607-613.
20. Bass BL, Weintraub H: A developmentally regulated activity that unwinds RNA duplexes. Cell 1988;55:1089-1098.
21. Wagner RW, Smith JE, Cooperman BS, Nishikura K: A double-stranded RNA unwinding activity introduces structural alterations by means of adenosine to inoxine conversions. Proc Natl Acad Sci USA 1989;86:2647-2651.
22. Wang Y, Zeng Y, Murray JM, Nishikura K: Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing. J Mol Biol 1995;25:184-195.
23. Polson AG, Crain PF, Pomerantz SC, McCloskey JA, Bass BL: The mechanism of adenosine to inosine conversion by the double-stranded RNA unwinding/modifying activity: a high-performance liquid chromatography-mass spectrometry analysis. Biochemistry 1991;30:11507-11514.