Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Five novel mutations of the ADAR1 gene

Journal of Dermatological Science

Volumn 58, Issue 3, 2010, Pages 218-220

  Murata, Ichidai ^a   Hayashi, Masahiro ^a   Hozumi, Yutaka ^a   Fujii, Kazuyasu ^b   Mitsuhashi, Yoshihiko ^c   Oiso, Naoki ^d   Fukai, Kazuyoshi ^e   Kuroki, Nozomi ^f   Mori, Yasuki ^g   Utani, Atsushi ^h   Tomita, Yasushi ⁱ   Fujita, Yasuyuki ^j   Suzuki, Tamio ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b OKAYAMA UNIVERSITY   (Japan)

^c TOKYO MEDICAL UNIVERSITY   (Japan)

^d KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f CHIGASAKI MUNICIPAL HOSPITAL   (Japan)

^g Iwate Prefectural Central Hospital   (Japan)

^h KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁱ NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^j HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

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Author keywords

Adenosine deaminase acting on RNA 1; Genodermatosis; Pigment disorder

Indexed keywords

ADENOSINE DEAMINASE; ARGININE; ASPARAGINE; CYSTEINE; DOUBLE STRANDED RNA SPECIFIC ADENOSINE DEAMINASE; LYSINE; THREONINE; TYROSINE; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; ENZYME ACTIVITY; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENODERMATOSIS; HUMAN; HYPOPIGMENTATION; JAPANESE; LENTIGO; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

ADENOSINE DEAMINASE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HUMANS; JAPAN; PIGMENTATION DISORDERS; SKIN DISEASES, GENETIC;

EID: 77953136723     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2010.04.001     Document Type: Letter

References (10)

1. Tomita Y., Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet 2004, 131C:75-81.
2. Miyamura Y., Suzuki T., Kono M., Inagaki K., Ito S., Suzuki N., et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003, 73:693-699.
3. Zhang F., Liu H., Jiang D., Tian H., Wang C., Yu L. Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. J Dermatol Sci 2008, 50:109-114.
4. Kondo T., Suzuki T., Mitsuhashi Y., Ito S., Kono M., Komine M., et al. Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes. J Dermatol 2008, 35:395-406.
5. Hayashi M., Suzuki T. A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation. Arch Dermatol Res 2010, 10.1007/s00403-010r-r1036-5.
6. Bass B.L., Weintraub H. An unwinding activity that covalently modifies its double-stranded RNA substrate. Cell 1988, 55:1089-1098.
7. Wagner R.W., Smith J.E., Cooperman B.S., Nishikura K.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 USA 1989, 86:2647-2651.
8. Liu Q., Jiang L., Liu W.L., Kang X.J., 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.
9. Murata I., HozumiY, Kawaguchi M., Katagiri Y., Yasumoto S., Kubo Y., et al. Four Novel Mutations of the ADAR1 Gene in dyschromatosis symmetrica hereditaria. J Dermatol Sci 2009, 53:76-77.
10. 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.