Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families

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Published inInternational journal of dermatology Vol. 53; no. 3; pp. e194 - e196
Main Authors Kono, Michihiro, Suganuma, Mutsumi, Ito, Yasutomo, Ujiie, Hideyuki, Morimoto, Kenichi, Akiyama, Masashi
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.03.2014
Subjects
Adenosine Deaminase - chemistry
Adenosine Deaminase - genetics
Amino Acid Sequence
Asian Continental Ancestry Group - genetics
Female
Gene Deletion
Humans
Male
Molecular Sequence Data
Pedigree
Pigmentation Disorders - congenital
Pigmentation Disorders - genetics
Point Mutation
Protein Structure, Tertiary - genetics
RNA-Binding Proteins - chemistry
RNA-Binding Proteins - genetics
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Author Kono, Michihiro
Ujiie, Hideyuki
Akiyama, Masashi
Ito, Yasutomo
Suganuma, Mutsumi
Morimoto, Kenichi
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  email: Michihiro KonoDepartment of DermatologyNagoya UniversityGraduate School of Medicine65 Tsurumai-choShowa wardNagoyaJapan, miro@med.nagoya-u.ac.jp
  organization: Department of Dermatology, Nagoya University, Graduate School of Medicine, Nagoya, Japan
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  givenname: Masashi
  surname: Akiyama
  fullname: Akiyama, Masashi
  organization: Department of Dermatology, Nagoya University, Graduate School of Medicine, Nagoya, Japan
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References Liu Q, Jiang L, Liu WL, et al. Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol 2006; 154: 636-642.
Suzuki N, Suzuki T, Inagaki 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.
Kono M, Miyamura Y, Matsunaga J, et al. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. J Dermatol Sci 2000; 22: 88-95.
Kono M, Akiyama M, Kondo T, et al. Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. J Dermatol 2011; doi: 10.1111/j.1346-8138.2011.01385.x.
Miyamura Y, Suzuki T, Kono M, 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.
Bass BL, Weintraub H. An unwinding activity that covalently modifies its double-stranded RNA substrate. Cell 1988; 55: 1089-1098.
Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198-199.
O''Connell MA, Krause S, Higuchi M, et al. Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol 1995; 15: 1389-1397.
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2006; 154
2011
2003; 73
1995; 15
2005; 124
1998; 23
2000; 22
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  start-page: 88
  year: 2000
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  article-title: Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9
  publication-title: J Dermatol Sci
– volume: 73
  start-page: 693
  year: 2003
  end-page: 699
  article-title: Mutations of the RNA‐specific adenosine deaminase gene ( ) are involved in dyschromatosis symmetrica hereditaria
  publication-title: Am J Hum Genet
– volume: 154
  start-page: 636
  year: 2006
  end-page: 642
  article-title: Two novel mutations and evidence for haploinsufficiency of the gene in dyschromatosis symmetrica hereditaria
  publication-title: Br J Dermatol
– volume: 124
  start-page: 1186
  year: 2005
  end-page: 1192
  article-title: Mutation analysis of the gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis
  publication-title: J Invest Dermatol
– year: 2011
  article-title: Four novel gene mutations in patients with dyschromatosis symmetrica hereditaria
  publication-title: J Dermatol
– volume: 55
  start-page: 1089
  year: 1988
  end-page: 1098
  article-title: An unwinding activity that covalently modifies its double‐stranded RNA substrate
  publication-title: Cell
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  article-title: A rule for termination‐codon position within intron‐containing genes: when nonsense affects RNA abundance
  publication-title: Trends Biochem Sci
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SubjectTerms Adenosine Deaminase - chemistry
Adenosine Deaminase - genetics
Amino Acid Sequence
Asian Continental Ancestry Group - genetics
Female
Gene Deletion
Humans
Male
Molecular Sequence Data
Pedigree
Pigmentation Disorders - congenital
Pigmentation Disorders - genetics
Point Mutation
Protein Structure, Tertiary - genetics
RNA-Binding Proteins - chemistry
RNA-Binding Proteins - genetics
Title Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families
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