Definition of mutations in polyautoimmunity

Journal of Autoimmunity

Volumn 72, Issue , 2016, Pages 65-72

  Johar, Angad ^a   Sarmiento Monroy, Juan C ^b   Rojas Villarraga, Adriana ^b   Silva Lara, Maria F ^a   Patel, Hardip R ^a   Mantilla, Ruben D ^b   Velez, Jorge I ^a   Schulte, Klaus Martin ^a   Mastronardi, Claudio ^a   Arcos Burgos, Mauricio ^a,b   Anaya, Juan Manuel ^b  

^a Australian National University   (Australia)

^b UNIVERSIDAD DEL ROSARIO   (Colombia)

Author keywords

Extreme phenotype; Familial autoimmunity; Genetics; Linkage; Network analysis; Polyautoimmunity

Indexed keywords

ARTICLE; AUTOIMMUNITY; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIATION; HUMAN; PEDIGREE ANALYSIS; PHENOTYPE; POLYAUTOIMMUNITY; PRIORITY JOURNAL; DNA SEQUENCE; FAMILY HEALTH; FEMALE; GENE REGULATORY NETWORK; GENETIC PREDISPOSITION; GENETICS; GENOMICS; LOD SCORE; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROCEDURES;

ABC TRANSPORTER; CARRIER PROTEIN; DHX34 PROTEIN, HUMAN; DNA BINDING PROTEIN; MLL4 PROTEIN, HUMAN; PLAUR PROTEIN, HUMAN; RNA HELICASE; STEROID RECEPTOR RNA ACTIVATOR, HUMAN; UROKINASE RECEPTOR;

ATP-BINDING CASSETTE TRANSPORTERS; AUTOIMMUNITY; BASE SEQUENCE; CARRIER PROTEINS; DNA-BINDING PROTEINS; EXOME; FAMILY HEALTH; FEMALE; GENE REGULATORY NETWORKS; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HUMANS; LOD SCORE; MALE; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, UROKINASE PLASMINOGEN ACTIVATOR; RNA HELICASES; SEQUENCE ANALYSIS, DNA;

EID: 84975472133     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2016.05.003     Document Type: Article

References (43)

1. [1] Gibson, G., Rare and common variants: twenty arguments. Nat. Rev. Genet. 13 (2011), 135–145.
2. [2] Anaya, J.M., The diagnosis and clinical significance of polyautoimmunity. Autoimmun. Rev. 13:4–5 (2014), 423–426.
3. [3] Anaya, J.M., Common mechanisms of autoimmune diseases (the autoimmune tautology). Autoimmun. Rev. 11:11 (2012), 781–784.
4. [4] Anaya, J.M., Castiblanco, J., Rojas-Villarraga, A., et al. The multiple autoimmune syndromes. A clue for the autoimmune tautology. Clin. Rev. Allergy Immunol. 43 (2012), 256–264.
5. [5] Castiblanco, J., Sarmiento-Monroy, J.C., Mantilla, R.D., et al. Familial aggregation and segregation analysis in families presenting autoimmunity, polyautoimmunity, and multiple autoimmune syndrome. J. Immunol. Res., 2015, 2015, 572353.
6. [6] Cárdenas-Roldán, J., Rojas-Villarraga, A., Anaya, J.M., How do autoimmune diseases cluster in families? A systematic review and meta-analysis. BMC Med., 11, 2013, 73.
7. [7] Velez, J.I., Chandrasekharappa, S.C., Henao, E., et al. Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease. Mol. Psychiatry 18 (2013), 568–575.
8. [8] Camargo, M., Rivera, D., Moreno, L., et al. GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur. J. Med. Genet. 55 (2012), 510–514.
9. [9] Arcos-Burgos, M., Jain, M., Acosta, M.T., et al. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol. Psychiatry 15 (2010), 1053–1066.
10. [10] Marazita, M.L., Lidral, A.C., Murray, J.C., et al. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum. Hered. 68 (2009), 151–170.
11. [11] Bravo, M.L., Valenzuela, C.Y., Arcos-Burgos, O.M., Polymorphisms and phyletic relationships of the paisa community from antioquia (Colombia). Gene Geogr. 10 (1996), 11–17.
12. [12] Johar, A.S., Anaya, J.M., Andrews, D., et al. Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture. Autoimmun. Rev. 14 (2015), 204–209.
13. [13] Johar, A.S., Mastronardi, C., Rojas-Villarraga, A., et al. Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjogren's syndrome. J. Transl. Med., 13, 2015, 173.
14. [14] Paz-Filho, G., Boguszewski, M.C., Mastronardi, C.A., et al. Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders. Genes 5 (2014), 709–725.
15. [15] Darlington, T.M., Pimentel, R., Smith, K., et al. Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma. Transl. Psychiatry, 4, 2014, e471.
16. [16] Hu, H., Roach, J.C., Coon, H., et al. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat. Biotechnol. 32 (2014), 663–669.
17. [17] Kennedy, B., Kronenberg, Z., Hu, H., et al. Using VAAST to identify disease-associated variants in next-generation sequencing data. Curr. Protoc. Hum. Genet., 81, 2014 6 14 1-6 25.
18. [18] Liu, S., Sheng, L., Miao, H., et al. SRA gene knockout protects against diet-induced obesity and improves glucose tolerance. J. Biol. Chem. 289 (2014), 13000–13009.
19. [19] Duffy, M.J., The urokinase plasminogen activator system: role in malignancy. Curr. Pharm. Des. 10 (2004), 39–49.
20. [20] Nykjaer, A., Moller, B., Todd, R.F. 3rd, et al. Urokinase receptor. An activation antigen in human T lymphocytes. J. Immunol. 152 (1994), 505–516.
21. [21] Humphries, J., Gossage, J.A., Modarai, B., et al. Monocyte urokinase-type plasminogen activator up-regulation reduces thrombus size in a model of venous thrombosis. J. Vasc. Surg. 50 (2009), 1127–1134.
22. [22] Chavakis, T., Willuweit, A.K., Lupu, F., Preissner, K.T., Kanse, S.M., Release of soluble urokinase receptor from vascular cells. Thromb. Haemost. 86 (2001), 686–693.
23. [23] Baran, M., Mollers, L.N., Andersson, S., et al. Survivin is an essential mediator of arthritis interacting with urokinase signalling. J. Cell Mol. Med. 13 (2009), 3797–3808.
24. [24] Chiueh, C., Lee, S., Andoh, T., Murphy, D., Induction of antioxidative and antiapoptotic thioredoxin supports neuroprotective hypothesis of estrogen. Endocrine 21:1 (2003), 27–31.
25. [25] Lee, S.Y., Andoh, T., Murphy, D.L., Chiueh, C.C., 17beta-estradiol activates ICI 182,780-sensitive estrogen receptors and cyclic GMP-dependent thioredoxin expression for neuroprotection. FASEB J. 17:8 (2003), 947–948.
26. [26] Tedeschi, A., Di Giovanni, S., The non-apoptotic role of p53 in neuronal biology: enlightening the dark side of the moon. EMBO Rep. 10:6 (2009), 576–583.
27. [27] Ogawa, N., Dang, H., Kong, L., Anaya, J.M., Liu, G.T., Talal, N., Lymphocyte apoptosis and apoptosis-associated gene expression in Sjögren's syndrome. Arthritis Rheum. 39:11 (1996), 1875–1885.
28. [28] Kuhtreiber, W.M., Hayashi, T., Dale, E.A., Faustman, D.L., Central role of defective apoptosis in autoimmunity. J. Mol. Endocrinol. 31:3 (2003), 373–399.
29. [29] Okuma, A., Hoshino, K., Ohba, T., Fukushi, S., Aiba, S., Akira, S., et al. Enhanced apoptosis by disruption of the STAT3-IkappaB-zeta signaling pathway in epithelial cells induces Sjogren's syndrome-like autoimmune disease. Immunity 38:3 (2013), 450–460.
30. [30] Bernstein, B.E., Mikkelsen, T.S., Xie, X., et al. A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 125 (2006), 315–326.
31. [31] Barski, A., Cuddapah, S., Cui, K., et al. High-resolution profiling of histone methylations in the human genome. Cell 129 (2007), 823–837.
32. [32] Heintzman, N.D., Stuart, R.K., Hon, G., et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat. Genet. 39 (2007), 311–318.
33. [33] Rao, R.C., Dou, Y., Hijacked in cancer: the KMT2 (MLL) family of methyltransferases. Nat. Rev. Cancer 15 (2015), 334–346.
34. [34] Paulussen, A.D.C., Stegmann, A.P.A., Blok, M.J., et al. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum. Mutat. 32 (2011), E2018–E2025.
35. [35] Lindsley, A.W., Saal, H.M., Burrow, T.A., et al. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J. Allergy Clin. Immunol. 137:1 (2016), 179–187.
36. [36] Daniel, J.A., Nussenzweig, A., The AID-induced DNA damage response in chromatin. Mol. Cell 50 (2013), 309–321.
37. [37] Ichikawa, Y., Bayeva, M., Ghanefar, M., et al. Disruption of ATP-binding cassette B8 in mice leads to cardiomyopathy through a decrease in mitochondrial iron export. Proc. Natl. Acad. Sci. U. S. A. 109 (2012), 4152–4157.
38. [38] Sturm, A., Cunningham, P., Dean, M., The ABC transporter gene family of Daphnia pulex. BMC Genom., 10, 2009, 170.
39. [39] Katakura, K., Fujise, H., Takeda, K., et al. Overexpression of LaMDR2, a novel multidrug resistance ATP-binding cassette transporter, causes 5-fluorouracil resistance in Leishmania amazonensis. FEBS Lett. 561 (2004), 207–212.
40. [40] Wan, Z., Zhi, N., Wong, S., et al. Human parvovirus B19 causes cell cycle arrest of human erythroid progenitors via deregulation of the E2F family of transcriptionfactors. J. Clin. Invest 120 (2010), 3530–3544.
41. [41] Longman, D., Hug, N., Keith, M., et al. DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans. Nucleic Acids Res. 41 (2013), 8319–8331.
42. [42] Liu, Y., Lu, N., Yuan, B., et al. The interaction between the helicase DHX33 and IPS-1 as a novel pathway to sense double-stranded RNA and RNA viruses in myeloid dendritic cells. Cell Mol. Immunol. 11 (2014), 49–57.
43. [43] Anaya, J.M., Ramirez-Santana, C., Alzate, M.A., Molano-Gonzalez, N., Rojas-Villarraga, A., The autoimmune ecology. Front. Immunol., 7, 2016, 139, 10.3389/fimmu.2016.00139.