Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria

British Journal of Dermatology

Volumn 154, Issue 4, 2006, Pages 636-642

  Liu, Q ^a   Jiang, L ^b   Liu, W L ^c   Kang, X J ^a   Ao, Y ^a   Sun, M ^a   Luo, Y ^b   Song, Y ^c   Lo, W H Y ^a   Zhang, X ^a,b  

^a PEKING UNION MEDICAL COLLEGE   (China)

^b CHINA MEDICAL UNIVERSITY   (China)

^c Shenyang No7 People's Hospital   (China)

Author keywords

ADAR; Double stranded RNA specific adenosine deaminase; Dyschromatosis symmetrica hereditaria; Haploinsufficiency

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ADAR GENE; ALLELISM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; DYSCHROMATOSOSIS SYMMETRICA HEREDITARIA; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN DISEASE; SKIN PIGMENTATION;

ADENOSINE DEAMINASE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HAPLOTYPES; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PIGMENTATION DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN DISEASES, GENETIC;

EID: 33644873012     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07133.x     Document Type: Article

References (35)

1. Oyama M Shimizu H Ohata Y et al. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi) Br J Dermatol 1999 140 491 6
2. Toyama I. Dyschromatosis symmetrica hereditaria Jpn J Dermatol 1929 27 95 6
3. 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 9
4. Bass BL Weintraub H. An unwinding activity that covalently modifies its double-stranded RNA substrate Cell 1988 55 1089 98
5. Wagner RW Smith JE Cooperman BS et al. 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 51
6. Wagner RW Yoo C Wrabetz L et al. Double-stranded RNA unwinding and modifying activity is detected ubiquitously in primary tissues and cell lines Mol Cell Biol 1990 10 5586 90
7. 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 97
8. Melcher T Maas S Herb A et al. A mammalian RNA editing enzyme Nature 1996 379 460 4
9. Wang Y Zeng Y Murray JM et al. 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 95
10. Liu Q Liu WL Jiang L et al. Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria J Invest Dermatol 2004 122 896 9
11. Zhang XJ He PP Li M 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 30
12. Li M Jiang YX Liu JB et al. A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria Clin Exp Dermatol 2004 29 533 5
13. Yang Y Li S Li H et al. DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria Beijing Da Xue Xue Bao 2004 36 466 8
14. Li CR Li M Ma HJ et al. A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria J Dermatol Sci 2005 37 95 9
15. Gao M Wang PG Yang S et al. Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria Arch Dermatol 2005 141 193 6
16. Cui Y Wang J Yang S et al. Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria Arch Dermatol Res 2005 296 543 5
17. 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 24 1186 92
18. Sun XK Xu AE Chen JF Tang X. The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described Br J Dermatol 2005 153 342 5
19. T method Methods 2001 25 402 8
20. Rebagliati MR Melton DA. Antisense RNA injections in fertilized frog eggs revealed an RNA duplex unwinding activity Cell 1987 48 599 605
21. 2 deprivation in Drosophila melanogaster J Clin Invest 2001 107 685 93
22. Palladino MJ Keegan LP O'Connell MA et al. A-to-I pre-mRNA editing in Drosophila is primarily involved in adult nervous system function and integrity Cell 2000 102 437 49
23. Chen L Rio DC Haddad GG et al. Regulatory role of dADAR in ROS metabolism in Drosophila CNS Brain Res Mol Brain Res 2004 131 93 100
24. Wang Q Khillan J Gadue P et al. Requirement of the RNA editing deaminase DSRAD gene for embryonic erythropoiesis Science 2000 290 1765 8
25. Hartner JC Schmittwolf C Kispert A et al. Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme DSRAD J Biol Chem 2004 279 4894 902
26. Wang Q Miyakoda M Yang W et al. Stress-induced apoptosis associated with null mutation of DSRAD RNA editing deaminase gene J Biol Chem 2004 279 4952 61
27. Mendell JT Dietz HC. When the message goes awry: disease-producing mutations that influence mRNA content and performance Cell 2001 107 411 14
28. Nagy E Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance TIBS 1998 23 198 9
29. Maquat LE. Defects in RNA splicing and the consequence of shortened translational reading frames Am J Hum Genet 1996 59 279 86
30. Bateman JF Freddi S Nattrass G et al. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage Hum Mol Genet 2003 12 217 25
31. Lamande SR Bateman JF Hutchison W et al. Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency Hum Mol Genet 1998 7 981 9
32. Bateman JF Freddi S Lamande SR et al. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability Hum Mutat 1999 13 311 17
33. Freddi S Savarirayan R Bateman JF. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability Am J Med Genet 2000 90 398 406
34. Cho DS Yang W Lee JT et al. Requirement of dimerization for RNA editing activity of adenosine deaminases acting on RNA J Biol Chem 2003 278 17093 102
35. Gallo A Keegan LP Ring GM O'Connell MA. An ADAR that edits transcripts encoding ion channel subunits functions as a dimer EMBO J 2003 22 3421 30