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Literature DB >> 17357087

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Gillian Rice¹, William G Newman, John Dean, Teresa Patrick, Rekha Parmar, Kim Flintoff, Peter Robins, Scott Harvey, Thomas Hollis, Ann O'Hara, Ariane L Herrick, Andrew P Bowden, Fred W Perrino, Tomas Lindahl, Deborah E Barnes, Yanick J Crow.

Abstract

TREX1 constitutes the major 3'-->5' DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus. Interestingly, Aicardi-Goutieres syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2007 PMID： 17357087 PMCID： PMC1852703 DOI： 10.1086/513443

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

1. Excision of 3' termini by the Trex1 and TREX2 3'-->5' exonucleases. Characterization of the recombinant proteins.

Authors: D J Mazur; F W Perrino
Journal: J Biol Chem Date: 2001-03-06 Impact factor: 5.157

2. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors: Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal: Am J Hum Genet Date: 2000-05-25 Impact factor: 11.025

3. Mutation of DNASE1 in people with systemic lupus erythematosus.

Authors: K Yasutomo; T Horiuchi; S Kagami; H Tsukamoto; C Hashimura; M Urushihara; Y Kuroda
Journal: Nat Genet Date: 2001-08 Impact factor: 38.330

4. Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages.

Authors: Kohki Kawane; Mayumi Ohtani; Keiko Miwa; Takuji Kizawa; Yoshiyuki Kanbara; Yoshichika Yoshioka; Hideki Yoshikawa; Shigekazu Nagata
Journal: Nature Date: 2006-10-26 Impact factor: 49.962

5. Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Authors: Y J Crow; D N Black; M Ali; J Bond; A P Jackson; M Lefson; J Michaud; E Roberts; J B P Stephenson; C G Woods; P Lebon
Journal: J Med Genet Date: 2003-03 Impact factor: 6.318

6. Properties of deoxyribonuclease 3 from mammalian tissues.

Authors: T Lindahl; J A Gally; G M Edelman
Journal: J Biol Chem Date: 1969-09-25 Impact factor: 5.157

7. Familial systemic lupus erythematosus and congenital infection-like syndrome.

Authors: R C Dale; S P Tang; J Z Heckmatt; F M Tatnall
Journal: Neuropediatrics Date: 2000-06 Impact factor: 1.947

8. Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.

Authors: Masashi Morita; Gordon Stamp; Peter Robins; Anna Dulic; Ian Rosewell; Geza Hrivnak; Graham Daly; Tomas Lindahl; Deborah E Barnes
Journal: Mol Cell Biol Date: 2004-08 Impact factor: 4.272

9. Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

Authors: F Goutières; J Aicardi; P G Barth; P Lebon
Journal: Ann Neurol Date: 1998-12 Impact factor: 10.422

Review 10. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Authors: J L Tolmie; P Shillito; R Hughes-Benzie; J B Stephenson
Journal: J Med Genet Date: 1995-11 Impact factor: 6.318

140 in total

1. The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

Authors: Clinton D Orebaugh; Jason M Fye; Scott Harvey; Thomas Hollis; Fred W Perrino
Journal: J Biol Chem Date: 2011-09-21 Impact factor: 5.157

2. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Authors: B Namjou; P H Kothari; J A Kelly; S B Glenn; J O Ojwang; A Adler; M E Alarcón-Riquelme; C J Gallant; S A Boackle; L A Criswell; R P Kimberly; E Brown; J Edberg; A M Stevens; C O Jacob; B P Tsao; G S Gilkeson; D L Kamen; J T Merrill; M Petri; R R Goldman; L M Vila; J-M Anaya; T B Niewold; J Martin; B A Pons-Estel; J M Sabio; J L Callejas; T J Vyse; S-C Bae; F W Perrino; B I Freedman; R H Scofield; K L Moser; P M Gaffney; J A James; C D Langefeld; K M Kaufman; J B Harley; J P Atkinson
Journal: Genes Immun Date: 2011-01-27 Impact factor: 2.676

3. Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.

Authors: Suzanna L Bailey; Scott Harvey; Fred W Perrino; Thomas Hollis
Journal: DNA Repair (Amst) Date: 2011-11-08

4. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease.

Authors: Alevtina Gall; Piper Treuting; Keith B Elkon; Yueh-Ming Loo; Michael Gale; Glen N Barber; Daniel B Stetson
Journal: Immunity Date: 2012-01-27 Impact factor: 31.745

10. IFNαR signaling in effector but not regulatory T cells is required for immune dysregulation during type I IFN-dependent inflammatory disease.

Authors: Shivani Srivastava; Lisa K Koch; Daniel J Campbell
Journal: J Immunol Date: 2014-08-04 Impact factor: 5.422