New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1

PLoS ONE

Volumn 9, Issue 7, 2014, Pages

  Mora, Mireia ^a,b,c   Hanzu, Felicia A ^a,b,c   Pradas Juni, Marta ^b,c   Aranda, Gloria B ^a,b,c   Halperin, Irene ^a,b   Puig Domingo, Manuel ^d   Aguiló, Sira ^a   Fernández Rebollo, Eduardo ^b,c  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AUTOIMMUNE REGULATOR PROTEIN; RNA SPLICING; TRANSCRIPTION FACTOR;

ADULT; AGED; AIRE GENE; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANDIDIASIS; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC TRANSCRIPTION; HUMAN; HYPOPARATHYROIDISM; INTRON; PHENOTYPE; RNA SPLICING; SIBLING; SPLICE SITE ACCEPTOR MUTATION; CHEMICAL STRUCTURE; GENETICS; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYENDOCRINOPATHY;

BASE SEQUENCE; FEMALE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; RNA SPLICE SITES; TRANSCRIPTION FACTORS;

EID: 84903790445     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0101616     Document Type: Article

References (38)

1. Perheentupa J (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 91: 2843-2850.
2. Buzi F, Badolato R, Mazza C, Giliani S, Notarangelo LD, et al. (2003) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? J Clin Endocrinol Metab 88: 3146-3148. (Pubitemid 36877486)
3. Michels AW, Gottlieb PA (2010) Autoimmune polyglandular syndromes. Nat Rev Endocrinol 6: 270-277.
4. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, et al. (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87: 2568-2574. (Pubitemid 34655315)
5. Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J, et al. (1997) High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res 7: 820-829. (Pubitemid 27406063)
6. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, et al. (1997) Positional cloning of the APECED gene. Nat Genet 17: 393-398. (Pubitemid 27518386)
7. Mittaz L, Rossier C, Heino M, Peterson P, Krohn KJ, et al. (1999) Isolation and characterization of the mouse Aire gene. Biochem Biophys Res Commun 255: 483-490. (Pubitemid 29292286)
8. Gibson TJ, Ramu C, Gemund C, Aasland R (1998) The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem Sci 23: 242-244. (Pubitemid 28343365)
9. Sternsdorf T, Grotzinger T, Jensen K, Will H (1997) Nuclear dots: actors on many stages. Immunobiology 198: 307-331. (Pubitemid 28021406)
10. Sternsdorf T, Jensen K, Reich B, Will H (1999) The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers. J Biol Chem 274: 12555-12566.
11. Guldner HH, Szostecki C, Schroder P, Matschl U, Jensen K, et al. (1999) Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif. J Cell Sci 112 (Pt 5): 733-747. (Pubitemid 29141992)
12. Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, et al. (2002) Projection of an immunological self shadow within the thymus by the aire protein. Science 298: 1395-1401. (Pubitemid 35346134)
13. Liston A, Goodnow CC (2005) Genetic lesions in thymic T cell clonal deletion and thresholds for autoimmunity. Novartis Found Symp 267: 180-192; discussion 192-189.
14. Gardner JM, Devoss JJ, Friedman RS, Wong DJ, Tan YX, et al. (2008) Deletional tolerance mediated by extrathymic Aire-expressing cells. Science 321: 843-847.
15. Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, et al. (2007) Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab 92: 595-603.
16. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, et al. (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66: 378-392. (Pubitemid 30468815)
17. Akirav EM, Ruddle NH, Herold KC (2011) The role of AIRE in human autoimmune disease. Nat Rev Endocrinol 7: 25-33.
18. Mathis D, Benoist C (2009) Aire. Annu Rev Immunol 27: 287-312.
19. Martinez Lopez MM, Gonzalez Casado I, Alvarez Doforno R, Delgado Cervino E, Gracia Bouthelier R (2006) [AIRE gene mutation in polyglandular syndrome type 1]. An Pediatr (Barc) 64: 583-587.
20. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408. (Pubitemid 34164012)
21. Dogan RI, Getoor L, Wilbur WJ, Mount SM (2007) SplicePort-an interactive splice-site analysis tool. Nucleic Acids Res 35: W285-291.
22. Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-394. (Pubitemid 38901668)
23. Wang M, Marin A (2006) Characterization and prediction of alternative splice sites. Gene 366: 219-227. (Pubitemid 43230165)
24. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7: e46688.
25. Zhang Y (2008) I-TASSER server for protein 3D structure prediction. BMC Bioinformatics 9: 40.
26. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-298. (Pubitemid 34279797)
27. Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, et al. (2009) Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED) and in their relatives. Clin Endocrinol (Oxf) 70: 421-428.
28. Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, et al. (2013) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet.
29. Bjorses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, et al. (1996) Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet 59: 879-886. (Pubitemid 26328085)
30. Maquat LE (2004) Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5: 89-99.
31. Husebye ES, Perheentupa J, Rautemaa R, Kampe O (2009) Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med 265: 514-529.
32. Kluger N, Ranki A, Krohn K (2012) APECED: is this a model for failure of T cell and B cell tolerance? Front Immunol 3: 232.
33. Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M (2012) Autoimmune polyendocrine syndrome type 1: case report and review of literature. Arq Bras Endocrinol Metabol 56: 54-66.
34. Gylling M, Kaariainen E, Vaisanen R, Kerosuo L, Solin ML, et al. (2003) The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. J Clin Endocrinol Metab 88: 4602-4608. (Pubitemid 37357500)
35. Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29: 824-826.
36. Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T (2000) Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 85: 2922-2926. (Pubitemid 32269174)
37. Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, et al. (1998) A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 63: 1675-1684. (Pubitemid 30415730)
38. Klein L, Hinterberger M, Wirnsberger G, Kyewski B (2009) Antigen presentation in the thymus for positive selection and central tolerance induction. Nat Rev Immunol 9: 833-844.