Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Archives of Dermatological Research

Volumn 302, Issue 6, 2010, Pages 469-476

  Li, Ming ^a,b,c   Yang, Lijia ^b,c   Li, Chengrang ^d   Jin, Cheng ^b,c   Lai, Meiling ^b,c   Zhang, Guolong ^e   Hu, Yan ^b,c   Ji, Jin ^b,c   Yao, Zhirong ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b WUXI NO 2 PEOPLE S HOSPITAL   (China)

^c NANJING MEDICAL UNIVERSITY   (China)

^d INSTITUTE OF DERMATOLOGY   (China)

^e WUXI PEOPLE S HOSPITAL AFFILIATED TO NANJING MEDICAL UNIVERSITY   (China)

Author keywords

ADAR1; Dyschromatosis symmetrica hereditaria; Mutation

Indexed keywords

ADENOSINE DEAMINASE; ARGININE; ASPARAGINE; ASPARTIC ACID; DOUBLE STRANDED RNA SPECIFIC ADENOSINE DEAMINASE; GLUTAMINE; ISOLEUCINE; LEUCINE; LYSINE; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; FAMILY STUDY; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INFANT; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PIGMENT DISORDER; PRIORITY JOURNAL;

ADENOSINE DEAMINASE; DNA MUTATIONAL ANALYSIS; FAMILY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MUTATION; OPEN READING FRAMES; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; SKIN DISEASES, GENETIC; SKIN PIGMENTATION;

EID: 77955549933     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-010-1039-2     Document Type: Article

References (38)

1. SC Chao JY Lee HM Sheu MH Yang 2005 A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria Br J Dermatol 153 1064 1066 10.1111/j.1365-2133.2005.06874.x 1:CAS:528: DC%2BD2MXht1Cnsr7P 16225627 (Pubitemid 41540782)
2. SC Chao CY Huang MH Yang 2006 A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria Eur J Dermatol 16 449 450 16935814
3. Y Cui J Wang S Yang M Gao JJ Chen KL Yan FL Xiao W Huang XJ Zhang 2005 Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria Arch Dermatol Res 296 543 545 10.1007/s00403-005-0546-z 1:CAS:528:DC%2BD2MXjtl2ksLY%3D 15844011 (Pubitemid 40603274)
4. Y Dong S Xiao J Ren J Huo Y Liu X Li 2009 A novel missense mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria Eur J Dermatol 19 270 272 1:CAS:528:DC%2BD1MXmtlahuro%3D 19251566
5. M Gao PG Wang S Yang XL Hu KY Zhang YG Zhu YQ Ren WH Du GL Zhang Y Cui JJ Chen KL Yan FL Xiao SJ Xu W Huang XJ Zhang 2005 Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria Arch Dermatol 141 193 196 10.1001/archderm.141.2.193 1:CAS:528:DC%2BD2MXitFyksLY%3D 15724015 (Pubitemid 40216261)
6. PP He CD He Y Cui S Yang HH Xu M Li WT Yuan M Gao YH Liang CR Li SJ Xu JJ Chen HD Chen W Huang XJ Zhang 2004 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 50 633 639 10.1111/j.0007-0963.2004.05861.x (Pubitemid 38586212)
7. Y Hou J Chen M Gao F Zhou W Du Y Shen S Yang XJ Zhang 2007 Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria Acta Derm Venereol 87 18 21 10.2340/00015555-0168 1:CAS:528:DC%2BD2sXislCiur4%3D 17225010 (Pubitemid 46225385)
8. U Kim Y Wang T Sanford Y Zeng K Nishikura 1994 Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing Proc Natl Acad Sci USA 91 11457 11461 10.1073/pnas.91.24.11457 1:CAS:528:DyaK2MXitlyrsLw%3D 7972084 (Pubitemid 24356363)
9. T Kondo T Suzuki Y Mitsuhashi S Ito M Kono M Komine H Akita Y Tomita 2008 Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes J Dermatol 35 395 406 10.1111/j.1346-8138.2008.00493.x 1:CAS:528:DC%2BD1cXhtVymsr%2FP 18705826 (Pubitemid 351977686)
10. M Li LJ Yang YX Shi HY Huang 2007 A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria Arch Dermatol Res 299 273 275 10.1007/s00403-007-0762-9 1:CAS:528:DC%2BD2sXos1eqsbw%3D 17569068 (Pubitemid 47222923)
11. M Li C Li H Hua W Zhu Y Lu L Yang 2005 Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria Arch Dermatol Res 297 196 200 10.1007/s00403-005-0595-3 1:CAS:528:DC%2BD2MXht1SqtbzL 16215765 (Pubitemid 41618698)
12. M Li YX Jiang JB Liu S Yang PP He M Gao SC Wei KL Yan W Huang XJ Zhang 2004 A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria Clin Exp Dermatol 29 533 535 10.1111/j.1365-2230.2004. 01548.x 1:STN:280:DC%2BD2cvktVyrtw%3D%3D 15347341 (Pubitemid 39278202)
13. M Li LJ Yang XH Zhu 2008 Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria Clin Exp Dermatol 33 644 646 10.1111/j.1365-2230.2008.02887.x 1:STN:280:DC%2BD1cnhtFOnsg%3D%3D 18627385
14. CR Li M Li HJ Ma D Luo LJ Yang DG Wang XH Zhu XZ Yue WQ Chen WY Zhu 2005 A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria J Dermatol Sci 37 95 99 10.1016/j.jdermsci.2004.11.004 1:CAS:528:DC%2BD2MXkvVersQ%3D%3D 15659327 (Pubitemid 40126827)
15. Q Liu L Jiang WL Liu XJ Kang Y Ao M Sun Y Luo Y Song WH Lo X Zhang 2006 Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria Br J Dermatol 154 636 642 10.1111/j.1365-2133.2006.07133.x 1:CAS:528:DC%2BD28Xks1Ciu74%3D 16536805 (Pubitemid 43374087)
16. Q Liu W Liu L Jiang M Sun Y Ao X Zhao Y Song Y Luo WH Lo X Zhang 2004 Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria J Invest Dermatol 122 896 899 10.1111/j.0022-202X.2004.22429.x 1:CAS:528:DC%2BD2cXjvFyqt7c%3D 15102079 (Pubitemid 38580991)
17. Y Liu SX Xiao ZH Peng XB Lei JM Wang Y Li XL Li 2006 Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria Br J Dermatol 155 473 476 10.1111/j.1365-2133.2006.07223.x 1:CAS:528:DC%2BD28XpsVersLg%3D 16882194 (Pubitemid 44050589)
18. Y Liu S Xiao Z Peng Y Chu J Wang X Li S Zhou 2006 A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria Dermatology 213 200 203 10.1159/000095036 1:CAS:528:DC%2BD28XhtVKjtbrO 17033168 (Pubitemid 44567829)
19. J Lu Z Liao J Chen Y Xiang Z Wu C Zuo X Jiang J Huang 2006 Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria Arch Dermatol Res 298 357 360 10.1007/s00403-006-0701-1 17021765
20. Y Miyamura T Suzuki M Kono K Inagaki S Ito N Suzuki Y Tomita 2003 Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria Am J Hum Genet 73 693 699 10.1086/378209 1:CAS:528:DC%2BD3sXnt1WqsLo%3D 12916015 (Pubitemid 37076285)
21. I Murata Y Hozumi M Kawaguchi Y Katagiri S Yasumoto Y Kubo W Fujimoto T Horikawa T Kondo M Kono Y Tomita T Suzuki 2009 Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria J Dermatol Sci 53 76 77 10.1016/j.jdermsci.2008.07.011 1:CAS:528:DC%2BD1cXhsFamtbzL 18799292
22. LS Ostlere RC Ratnavel F Lawlor MM Black WA Griffiths 1995 Reticulate acropigmentation of Dohi Clin Exp Dermatol 20 477 479 10.1111/j.1365-2230.1995. tb01382.x 1:STN:280:DyaK2s%2FhtVarsg%3D%3D 8857341 (Pubitemid 26080254)
23. M Oyama H Shimizu Y Ohata S Tajima T Nishikawa 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 10.1046/j.1365-2133.1999.02716.x 1:STN:280: DyaK1M3ltVSjsA%3D%3D 10233273 (Pubitemid 29182884)
24. JW Ren SJ Luo ZH Peng Y Liu M Pan SX Xiao 2008 Novel frameshift mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria J Eur Acad Dermatol Venereol 22 1375 1376 10.1111/j.1468-3083.2008.02632.x 1:STN:280:DC%2BD1cjkvVWmtg%3D%3D 18331298
25. M Schade CJ Turner R Kühne P Schmieder K Lowenhaupt A Herbert A Rich H Oschkinat 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 USA 96 12465 12470 10.1073/pnas.96.22.12465 1:CAS:528: DyaK1MXnt1yrurg%3D 10535945 (Pubitemid 29513525)
26. XK Sun AE Xu JF Chen X Tang 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 10.1111/j.1365-2133.2005.06572.x 1:CAS:528:DC%2BD2MXhtVWjsLfK 16086746 (Pubitemid 41228431)
27. N Suzuki T Suzuki K Inagaki S Ito M Kono T Horikawa S Fujiwara A Ishiko K Matsunaga Y Aoyama H Tosaki-Ichikawa Y Tomita 2007 Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria J Invest Dermatol 127 309 311 10.1038/sj.jid.5700528 1:CAS:528: DC%2BD2sXlt1yqtA%3D%3D 16917490 (Pubitemid 46106907)
28. N Suzuki T Suzuki K Inagaki S Ito M Kono K Fukai H Takama K Sato O Ishikawa M Abe H Shimizu M Kawai T Horikawa K Yoshida K Matsumoto T Terui K Tsujioka Y Tomita 2005 Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentation reticularis J Invest Dermatol 124 1186 1192 10.1111/j.0022-202X.2005.23732.x 1:CAS:528:DC%2BD2MXlvF2kt78%3D 15955093 (Pubitemid 40847405)
29. K Tojo Y Sekijima T Suzuki N Suzuki Y Tomita K Yoshida T Hashimoto S Ikeda 2006 Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation Mov Disord 21 1510 1513 10.1002/mds.21011 16817193 (Pubitemid 44613313)
30. Y Tomita T Suzuki 2004 Genetics of pigmentary disorders Am J Med Genet C Semin Med Genet 131C 75 81 10.1002/ajmg.c.30036 15452859 (Pubitemid 39441636)
31. I Toyama 1929 Dyschromatosis symmetrica hereditaria Jpn J Dermatol 27 95 96
32. Q Wang M Miyakoda W Yang J Khillan DL Stachura MJ Weiss K Nishikura 2004 Stress-induced apoptosis associated with null mutation of ADAR1 RNA editing deaminase gene J Biol Chem 279 4952 4961 10.1074/jbc.M310162200 1:CAS:528:DC%2BD2cXpslSjug%3D%3D 14613934 (Pubitemid 38199091)
33. Q Xing A Shu L Yu A Zhang J DU J Xuan L Wang G He J Meng X Li G Feng L He 2007 Novel deletion mutation of DSRAD in a Chinese family with dyschromatosis symmetrica hereditaria (DSH) Eur J Dermatol 17 247 248 1:CAS:528: DC%2BD2sXnvFCqtbs%3D 17478391
34. Q Xing M Wang X Chen X Qian W Qin J Gao S Wu R Gao G Feng L He 2005 Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH) Arch Dermatol Res 297 139 142 10.1007/s00403-005- 0589-1 1:CAS:528:DC%2BD2MXhtVOitbzI 16133458 (Pubitemid 41425044)
35. Y Yang S Li H Li DF Bu K Wang P Tu XJ Zhu 2004 DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria Beijing Da Xue Xue Bao 36 466 468 1:CAS:528:DC%2BD2MXotVamsQ%3D%3D 15489923 Chinese
36. F Zhang H Liu D Jiang H Tian C Wang L Yu 2008 Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria J Dermatol Sci 50 109 114 10.1016/j.jdermsci.2007.11.011 1:CAS:528: DC%2BD1cXktlGisL0%3D 18243666
37. XJ Zhang PP He M Li CD He KL Yan Y Cui S Yang KY Zhang M Gao JJ Chen CR Li L Jin HD Chen SJ Xu W Huang 2004 Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH) Hum Mutat 23 629 630 10.1002/humu.9246 1:CAS:528: DC%2BD2MXht1Cku7rI 15146470
38. XJ Zhang M Gao M Li M Li CR Li Y Cui PP He SJ Xu XY Xiong ZX Wang WT Yuan S Yang W Huang 2003 Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21 J Invest Dermatol 120 776 780 10.1046/j.1523-1747.2003.12130.x 1:CAS:528:DC%2BD3sXjslGguro%3D 12713580 (Pubitemid 36529077)