Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria

Acta Dermato-Venereologica

Volumn 87, Issue 1, 2007, Pages 18-21

  Hou, Yanxia ^a,b   Chen, Jianjun ^a,b   Gao, Min ^a,b   Zhou, Fusheng ^b   Du, Wenhui ^a,b   Shen, Yujun ^b   Yang, Sen ^a,b   Zhang, Xue Jun ^a,b  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b Key Laboratory of Genome Research at Anhui   (China)

Author keywords

ADAR gene; Dyschromatosis symmetrica hereditaria; Mutation

Indexed keywords

ADENOSINE DEAMINASE; DOUBLE STRANDED RNA; TRANSFER RNA;

ARTICLE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENODERMATOSIS; HETEROZYGOSITY; HUMAN; PRIORITY JOURNAL;

ADENOSINE DEAMINASE; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PIGMENTATION DISORDERS; SKIN DISEASES, GENETIC;

EID: 33846873046     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0168     Document Type: Article

References (24)

1. Ostlere LS, Ratnavel RC, Lawlor F, Black MM, Griffiths WA. Reticulate acropigmentation of Dohi. Clin Exp Dermatol 1995; 20: 477-479.
2. Toyama I. An unknown disorder of hyperpigmentation. Jpn J Dermatol Urol 1910; 10: 644.
3. Toyama I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol Urol 1929; 29: 95-96.
4. Zhang XJ, He PP, Li M, He CD, Yan KL, Cui Y, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat 2004; 23: 629-630.
5. 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.
6. 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 Derm 2000; 43: 113-117.
7. Zhang XJ, Gao M, Li M, Li CR, Cui Y, He PP, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 2003; 120: 776-780.
8. Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, et al. Mutations of the RNA-specific adenosine deaminase gene (ADAR) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003; 73: 693-699.
9. Liu Q, Liu W, Jiang L, Sun M, Ao Y, Zhao X, et al. Novel mutations of the RNA-specific adenosine deaminase gene (ADAR) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2004; 122: 896-899.
10. Li M, Jiang YX, Liu JB, Yang S, He PP, Gao M, et al. A novel mutation of the ADAR gene in a Chinese family with Dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 2004; 29: 533-535.
11. Yang Y, Li S, Li H, Bu DF, Wang K, Tu P, et al. ADAR gene mutations in three families with dyschromatosis symmetrica hereditaria. Beijing Da Xue Xue Bao 2004; 36: 466-468 [in Chinese].
12. Li CR, Li M, Ma HJ, Luo D, Yang LJ, Wang DG, et al. A new arginine substitution mutation of ADAR gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Dermatol Sci 2005; 37: 95-99.
13. Gao M, Wang PG, Yang S, Hu XL, Zhang KY, Zhu YG, et al. Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. Arch Dermatol 2005; 141: 193-196.
14. Cui Y, Wang J, Yang S, Gao M, Chen JJ, Yan KL, et al. Identification of a novel mutation in the ADAR gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2005; 296: 543-545.
15. Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Fukai K, et al. 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.
16. Sun XK, Xu AE, Chen JF, Tang X. The double-RNA-specific adenosine deaminase (ADAR) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. Br J Dermatol 2005; 153: 342-345.
17. Xing Q, Wang M, Chen X, Qian X, Qin W, Gao J, et al. Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). Arch Dermatol Res 2005; 297: 139-142.
18. 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; 8: 1-5.
19. Chao SC, Lee JY, Sheu HM, Yang MH. A novel deletion mutation of the ADAR gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria. Br J Dermatol 2005; 153: 1064-1066.
20. Liu Q, Jiang L, Liu WL, Kang XJ, Ao Y, Sun M, et al. Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol 2006; 154: 636-642.
21. Herbert A, Wagner S, Nickerson JA. Induction of protein translation by ADAR1 within living cell nuclei is not dependent on RNA editing. Mol Cell 2002; 10: 1235-1246.
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; 254: 184-195.
23. O'Connell MA, Krause S, Higuchi M, Hsuan JJ, Totty NF, Jenny A, et al. Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol 1995; 15: 5376-5388.
24. Cho DS, Yang W, Lee JT, Shiekhattar R, Murray JM, Nishikura K. Requirement of dimerization for RNA editing activity of adenosine deaminases acting on RNA. J Biol Chem 2003; 278: 17093-17102.