Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria

被引:9
作者
Kawaguchi, Masakazu [1 ]
Hayashi, Masahiro [1 ]
Murata, Ichidai [1 ]
Hozumi, Yutaka [1 ]
Suzuki, Noriyuki [2 ]
Ishii, Yoshiyuki [3 ]
Wataya-Kaneda, Mari [4 ]
Funasaka, Yoko [5 ]
Kawakami, Tamihiro [6 ]
Fukai, Kazuyoshi [7 ]
Ochiai, Toyoko [8 ]
Nishigori, Chikako [9 ]
Mitsuhashi, Yoshihiko [10 ]
Suzuki, Tamio [1 ]
机构
[1] Yamagata Univ, Sch Med, Dept Dermatol, Yamagata 9909585, Japan
[2] Toyohashi Municipal Hosp, Dept Dermatol, Toyohashi, Aichi, Japan
[3] Univ Tsukuba, Dept Dermatol, Inst Clin Med, Ibaraki, Japan
[4] Osaka Univ, Dept Dermatol, Grad Sch Med, Osaka, Japan
[5] Nippon Med Sch, Dept Dermatol, Tokyo 113, Japan
[6] St Marianna Univ, Dept Dermatol, Sch Med, Kawasaki, Kanagawa, Japan
[7] Osaka City Univ, Dept Dermatol, Grad Sch Med, Osaka 558, Japan
[8] Surugadai Nihon Univ Hosp, Dept Dermatol, Tokyo, Japan
[9] Kobe Univ, Div Dermatol, Grad Sch Med, Kobe, Hyogo 657, Japan
[10] Tokyo Med Univ, Dept Dermatol, Tokyo, Japan
关键词
ADENOSINE-DEAMINASE; UNWINDING ACTIVITY; ENZYME;
D O I
10.1016/j.jdermsci.2012.01.009
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:244 / 245
页数:2
相关论文
共 10 条
[1]   AN UNWINDING ACTIVITY THAT COVALENTLY MODIFIES ITS DOUBLE-STRANDED-RNA SUBSTRATE [J].
BASS, BL ;
WEINTRAUB, H .
CELL, 1988, 55 (06) :1089-1098
[2]   A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation [J].
Hayashi, Masahiro ;
Suzuki, Tamio .
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2010, 302 (06) :481-482
[3]   MUTAGENIC ANALYSIS OF DOUBLE-STRANDED-RNA ADENOSINE-DEAMINASE, A CANDIDATE ENZYME FOR RNA EDITING OF GLUTAMATE-GATED ION-CHANNEL TRANSCRIPTS [J].
LAI, F ;
DRAKAS, R ;
NISHIKURA, K .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (29) :17098-17105
[4]   Mechanism of interferon action: Functionally distinct RNA-binding and catalytic domains in the interferon-inducible, double-stranded RNA-Specific adenosine deaminase [J].
Liu, Y ;
Samuel, CE .
JOURNAL OF VIROLOGY, 1996, 70 (03) :1961-1968
[5]   Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria [J].
Miyamura, Y ;
Suzuki, T ;
Kono, M ;
Inagaki, K ;
Ito, S ;
Suzuki, N ;
Tomita, Y .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) :693-699
[6]  
OCONNELL MA, 1995, MOL CELL BIOL, V15, P1389
[7]   An essential role of RNA editing enzyme ADAR1 in mouse skin [J].
Sharma, Rohit ;
Wang, Yujuan ;
Zhou, Pei ;
Steinman, Richard A. ;
Wang, Qingde .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2011, 64 (01) :70-72
[8]   Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis [J].
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 .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (06) :1186-1192
[9]   Genetics of pigmentary disorders [J].
Tomita, Y ;
Suzuki, T .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2004, 131C (01) :75-81
[10]   A DOUBLE-STRANDED-RNA UNWINDING ACTIVITY INTRODUCES STRUCTURAL ALTERATIONS BY MEANS OF ADENOSINE TO INOSINE CONVERSIONS IN MAMMALIAN-CELLS AND XENOPUS EGGS [J].
WAGNER, RW ;
SMITH, JE ;
COOPERMAN, BS ;
NISHIKURA, K .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2647-2651