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

The British Journal of Dermatology
Q LiuX Zhang

Abstract

Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes a double-stranded RNA-specific adenosine deaminase. We previously reported two novel ADAR mutations (p.Q513X and p.R916W) and confirmed the role of ADAR in Chinese patients with DSH. Both haploinsufficiency and a dominant-negative effect have been suggested as the potential mechanism by which ADAR mutations cause DSH. To identify ADAR mutations in two additional Chinese DSH families and to obtain insight into the pathogenic mechanism of heterozygous ADAR mutations. For mutation detection, all ADAR exons and their flanking intronic sequences were amplified and sequenced. Mutations were further confirmed by restriction analysis. Direct sequencing of cDNA fragments produced by reverse transcription-polymerase chain reaction (RT-PCR) and real-time quantitative RT-PCR were used to examine the expression of ADAR in peripheral lymphocytes isolated from affected individuals. A small deletion, c.1555delT (p.C519fs), and a missense mutation, c.3116A>G (p.K1039R), were found in families A and B, respectively. In individuals carrying p.Q513X or p.C519fs, sequencing of cDNA fragments indicat...Continue Reading

References

Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R W WagnerK Nishikura
Mar 1, 1995·Molecular and Cellular Biology·M A O'ConnellW Keller
Feb 1, 1996·Nature·T MelcherM Higuchi
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Mar 6, 2003·The Journal of Biological Chemistry·Dan-Sung C ChoKazuko Nishikura
Jul 4, 2003·The EMBO Journal·Angela GalloMary A O'Connell
Aug 14, 2003·American Journal of Human Genetics·Yoshinori MiyamuraYasushi Tomita
Nov 14, 2003·The Journal of Biological Chemistry·Qingde WangKazuko Nishikura
Nov 15, 2003·The Journal of Biological Chemistry·Jochen C HartnerPeter H Seeburg
Sep 7, 2004·Clinical and Experimental Dermatology·M LiX J Zhang
Nov 9, 2004·Brain Research. Molecular Brain Research·Li ChenEnbo Ma

❮ Previous
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Citations

Jun 15, 2007·Archives of Dermatological Research·Ming LiHong-Yu Huang
Feb 27, 2010·Archives of Dermatological Research·Ming LiZhirong Yao
Dec 25, 2010·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Cyril X GeorgeCharles E Samuel
Jun 21, 2011·Biological Reviews of the Cambridge Philosophical Society·Angela Gallo, Franco Locatelli
Jun 27, 2008·Virchows Archiv : an International Journal of Pathology·Annegret MüllerUNKNOWN German HNPCC Consortium, German Cancer Aid Deutsche Krebshilfe
Aug 19, 2006·The Journal of Investigative Dermatology·Noriyuki SuzukiYasushi Tomita
Sep 19, 2008·Journal of Dermatological Science·Ichidai MurataTamio Suzuki
Jul 31, 2007·Dermatologic Clinics·Xue-Jun ZhangMin Gao
Nov 20, 2008·The Journal of Dermatology·Taisuke KondoYasushi Tomita
Jul 1, 2010·Journal of the European Academy of Dermatology and Venereology : JEADV·M LiZ Yao
Sep 15, 2012·The Journal of Dermatology·Masahiro Hayashi, Tamio Suzuki
Jan 23, 2013·The Journal of Dermatology·Michihiro KonoYasushi Tomita
Aug 12, 2015·Trends in Molecular Medicine·Maria Anna ZipetoCatriona H M Jamieson
Dec 3, 2014·Cell Reports·Niamh M MannionMary A O'Connell
May 16, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·C ChiJ Liu
Dec 27, 2018·Genes·Li-Di Xu, Marie Öhman
Aug 29, 2009·The EMBO Journal·Bret S E HealeMary A O'Connell
Aug 20, 2019·Molecular Genetics & Genomic Medicine·Peng WangXiaojing Kang
Apr 8, 2020·Frontiers in Cardiovascular Medicine·Hamid El AzzouziJoost P G Sluijter
Dec 3, 2016·Biochemical Society Transactions·Veronica DeziMatthias Soller
Mar 29, 2014·Journal of the European Academy of Dermatology and Venereology : JEADV·Q-Y WuX-Y Xia
Dec 18, 2020·European Respiratory Review : an Official Journal of the European Respiratory Society·Salvatore CazzatoVenerino Poletti
Dec 29, 2020·Critical Reviews in Biochemistry and Molecular Biology·Emily A ErdmannHeather A Hundley

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