A comprehensive network and pathway analysis of human deafness genes

Otology and Neurotology

Volumn 34, Issue 5, 2013, Pages 961-970

  Stamatiou, Georgios A ^a   Stankovic, Konstantina M ^b,c  

^a UNIVERSITY OF ATHENS   (Greece)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Deafness genes; ERK1 2; GPCR; HNF4A; MAPK1; Molecular pathways analysis; TGFB1

Indexed keywords

COCHLEA; GENE EXPRESSION REGULATION; GENETIC SCREENING; GENETICS; GENOTYPE; HEARING IMPAIRMENT; HUMAN; INNER EAR; METABOLISM; MUTATION; PERCEPTION DEAFNESS; PROCEDURES; ARTICLE; METHODOLOGY;

COCHLEA; DEAFNESS; EAR, INNER; GENE EXPRESSION REGULATION; GENETIC TESTING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION;

EID: 84880897755     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e3182898272     Document Type: Article

References (75)

1. Traynor B, "The incidence of hearing loss around the world." Hearing International. Available at: http://hearinghealthmatters.org/ hearinginternational/2011/incidence-of-hearing-loss-around-the-world/(2012). Accessed March 1, 2012.
2. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
3. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing non-syndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-96.
4. Bitner-Glindzics M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002;63:73-94.
5. Cryns K, Van Camp G. Deafness genes and their diagnostic applications. Audiol Neurootol 2004;9:2-22.
6. Hereditary Hearing Loss Homepage. Available at: http:// hereditaryhearingloss.org/. Accessed March 29, 2012.
7. Schrijver I. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn 2004;6:275-84.
8. Friedman TB, Griffith AJ. Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet 2003;4:341-402.
9. Linghu B, Snitkin ES, Hu Z, Xia Y, DeLisi C. Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network. Genome Biol 2009;10:R91.
10. Accetturo M, Creanza TM, Santoro C, et al. Finding new genes for non-syndromic hearing loss through an in silico prioritization study. PLoS One 2010;5:pii e 12742.
11. 2 from contingency tables, and the calculation of P. J R Stat Soc 1922;85:81-94.
12. Scheffer D, Shen J, Mingqian Huang, Corey D, Chen ZY. Cell-specific gene expression in the inner ear with FACS and RNA-Seq (in preparation). Available at: http://shield.hms.harvard.edu/gene-search.html. Accessed March 29, 2012.
13. Lu CC, Appler JM, Houseman EA, Goodrich LV. Developmental profiling of spiral ganglion neurons reveals insights into auditory circuit assembly. J Neurosci 2011;31:10903-18.
14. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-74.
15. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60-1.
16. Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16:188-90.
17. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-22.
18. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-7.
19. Campos-Xavier AB, Saraiva JM, Savarirayan R, et al. Phenotypic variability at the TGF-beta-1 locus in Camurati-Engelmann disease. Hum Genet 2001;109:653-8.
20. Thys M, Schrauwen I, Vanderstraeten K, et al. The coding polymorphism T263I in TGF-b1 is associated with otosclerosis in two independent populations. Hum Mol Genet 2007;16:2021-30.
21. Janssens K, ten Dijke P, Janssens S, Van Hul W. Transforming growth factor-beta1 to the bone. Endocr Rev 2005;26:743-74.
22. Frenz DA, Galinovic-Schwartz V, Liu W, Flanders KC, Van de Water TR. Transforming growth factor beta 1 is an epithelial-derived signal peptide that influences otic capsule formation. Dev Biol 1992;153:324-36.
23. Oreffo ROC, Mundy GR, Seyedin SM, Bonewald LF. Activation of the bone-derived latent Tgf beta-complex by isolated osteoclasts. Biochem Biophys Res Commun 1989;158:817-23.
24. Bakrania P, Efthimiou M, Klein JC, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 2008; 82:304-19.
25. Gennari L, Merlotti D, Nuti R. Aromatase activity and bone loss. Adv Clin Chem 2011;54:129-64.
26. Behl C, Widman M, Trapp T, Holsboer F. 17-beta estradiol protects neurons from oxidative stress-induced cell death in vitro. Biochem Biophys Res Commun 1995;216:473-82.
27. Hultcrantz M, Simonoska R, Stenberg AE. Estrogen and hearing: a summary of recent investigations. Acta Otolaryngol 2006;126:10-4.
28. Xia Z, Dickens M, Raingeaud J, Davis RJ, Greenberg ME. Opposing effects of ERK and JNK-p38MAPkinases on apoptosis. Science 1995;270:1326-31.
29. Arthur DB, Georgi S, Akassoglou K, Insel PA. Inhibition of apoptosis by P2-2 receptor activation: novel pathways for neuronal survival. J Neurosci 2006;26:3798-804.
30. Pearson G, Robinson F, Beers Gibson T, et al. Mitogen activated protein (MAP) kinase pathways: regulation and physiological functions. Endocr Rev 2001;22:153-83.
31. Wood K, Sarnecki C, Roberts TM, Blenis J. c-RAS mediates nerve growth factor receptor modulation of three signal-transducing protein kinases: MAP kinase, Raf-1 and RSK. Cell 1992;68:1041-50.
32. Battaglia A, Pak K, Brors D, Bodmer D, Frangos JA, Ryan AF. Involvement of ras activation in toxic hair cell damage of the mammalian cochlea. Neuroscience 2003;122:1025-35.
33. Lahne M, Gale JE. Damaged-induced activation of ERK 1/2 in cochlear supporting cells is a hair cell death-promoting signal that depends on extracellular ATP and calcium. J Neurosci 2008;28: 4918-28.
34. Rozenfeld R, Devi LA. Exploring a role for heteromerization in GPCR signalling specificity. Biochem J 2010;433:11-8.
35. Millar RP, Newton CL. The year in G protein-coupled receptor research. Mol Endocrinol 2010;24:261-74.
36. McMillan DR, White PC. Studies on the very large G proteincoupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals. Adv Exp Med Biol 2010; 706:76-86.
37. Drewes T, Senkel S, Holewa B, Ryffel GU. Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes. Mol Cell Biol 1996;16:925-31.
38. Jiang S, Tanaka T, Iwanari H, et al. Expression and localization of P1 promoter-driven hepatocyte nuclear factor-4alpha (HNF4alpha) isoforms in humans and rats. Nucl Recept 2003;1:5.
39. Hayhurst GP, Lee YH, Lambert G, Ward JM, Gonzalez FJ. Hepa-tocyte nuclear factor 4alpha (nuclear receptor 2A1) is essential for maintenance of hepatic gene expression and lipid homeostasis. Mol Cell Biol 2001;21:1393-403.
40. Inoue Y, Hayhurst GP, Inoue J, Mori M, Gonzalez FJ. Defective ureagenesis in mice carrying a liver-specific disruption of hepatocyte nuclear factor 4alpha (HNF4alpha). HNF4alpha regulates ornithine transcarbamylase in vivo. J Biol Chem 2002;277:25257-65.
41. Inoue Y, Yu AM, Inoue J, Gonzalez FJ. Hepatocyte nuclear factor 4alpha is a central regulator of bile acid conjugation. J Biol Chem 2004;279:2480-9.
42. Inoue Y, Peters LL, Yim SH, Inoue J, Gonzalez FJ. Role of hepa-tocyte nuclear factor 4alpha in control of blood coagulation factor gene expression. J Mol Med 2006;84:334-44.
43. Gupta RK, Vatamaniuk MZ, Lee CS, et al. The MOD-1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest 2005;115:1006-15.
44. Satoh H, Firestein GS, Billings PB, Harris JP, Keithley EM. Tumor necrosis factor-alpha, an initiator, and etanercept, an inhibitor of cochlear inflammation. Laryngoscope 2002;112:1627-34.
45. McCabe BF. Autoimmune sensorineural hearing loss. Ann Otol Rhinol Laryngol 1979;88:585-9
46. Parnes LS, Sun AH, Freeman DJ. Corticosteroid pharmacokinetics in the inner ear fluids: an animal study followed by clinical application. Laryngoscope 1999;109:1-17.
47. Curhan SG, Eavey R, Shargorodsky J, Curhan GC. Analgesic use and the risk of hearing loss in men. Am J Med 2010;123:231-7.
48. Curhan SG, Shargorodsky J, Eavey R, Curhan GC. Analgesic use and the risk of hearing loss in women. Am J Epidemiol 2012;176:544-54.
49. Maddox PT, Saunders J, Chandrasekhar SS. Sudden hearing loss from PDE-5 inhibitors: a possible cellular stress etiology. Laryngoscope 2009;119:1586-9.
50. Prud'homme GJ. Pathobiology of transforming growth factor beta in cancer, fibrosis and immunologic disease, and therapeutic considerations. Lab Invest 2007; 87: 1077-91.
51. Wolf G. Renal injury due to rennin-angiotensin-aldosterone sysyem activation of the transforming growth factor-beta pathway. Kidney Int 2006;70:1914-9.
52. Tox U, Steffen HM. Impact of inhibitors of the renin-angiotensin- aldosterone system on liver fibrosis and portal hypertension. Curr Med Chem 2006;13:3649-61.
53. Yao HW, Zhu JP, Zhao MH, Lu Y. Losartan attenuates bleomycin induced pulmonary fibrosis in rats. Respiration 2006;73:236-42.
54. Bujak M, Frangogiannis NG. The role of TGF-beta signaling in myocardial infarction and cardiac remodeling. Cardiovasc Res 2007;74:184-95.
55. Cohn RD, Van Erp C, Habashi JP, et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007;13: 204-10.
56. Dussaule JC, Chatziantoniou C. Reversal of renal disease: is it enough to inhibit the action of angiotensin II? Cell Death Differ 2007;14:1343-9.
57. Kim SI, Kim HJ, Han DC, Lee HB. Effect of lovastatin on small GTP binding proteins an on TGF-beta1 and fibronectin expression. Kidney Int Suppl 2000;77:S88-S92.
58. Watts KL, Spiteri MA. Connective tissue growth factor expression and induction by transforming growth factor-beta is abrogated by simvastatin via a Rho signaling mechanism. Am J Physiol Lung Cell Mol Physiol 2004;287:L1323-32.
59. Vieira JM Jr, Mantovani E, Rodrigues LT, et al. Simvastatin attenuates renal inflammation, tubular transdifferentiation and interstitial fibrosis in rats with unilateral uteral obstruction. Nephrol Dial Transplant 2005;20:1582-91.
60. Redondo S, Santos-Gallego CG, Tejerina T. TGF-beta1: a novel target for cardiovascular pharmacology. Cytokine Growth Factor Rev 2007;18:279-86.
61. Lasky J. Pirfenidone. IDrugs 2004;7:166-72.
62. Antoniu SA. Pirfenidone for the treatment of idiopathic pulmonary fibrosis. Expert Opin Investig Drugs 2006;15:823-8.
63. Wojtowicz-Praga S. Reversal of tumor-induced immunosuppres-sion by TGF-beta inhibitors. Invest New Drugs 2003;2:21-32.
64. Ruzek MC, Hawes M, Pratt B, et al. Minimal effects on immune parameters following chronic anti-TGF-beta monoclonal antibody administration to normal mice. Immunopharmacol Immunotoxicol 2003;25:235-57.
65. Forrester E, Chytil A, Bierie B, et al. Effect of conditional knockout of the type II TGF-beta receptor gene in mammary epithelia on mammary gland development and polyomavirus middle T antigen induced tumor formation and metastasis. Cancer Res 2005;65: 2296-302.
66. Tanimura S, Asato K, Fujishiro SH, Kohno M. Specific blockade of the ERK pathway inhibits the invasiveness of tumor cells: down-regulation of matrix metalloproteinase-3/-9/-14 and CD44. Bio-chem Biophys Res Commun 2003;304:801-6.
67. Kohno M, Poyssegur J. Pharmacological inhibitors of the ERK signaling pathway: applications as anticancer drugs. Prog Cell Cycle Res 2003;5:219-24.
68. Borlak J, Niehof M. HNF4alpha and HNF1alpha dysfunction as a molecular rational for cyclosporine induced posttransplantation diabetes mellitus. PLoS ONE 2009;4:e4662.
69. Marioni G, Perin N, Tregnaghi A, Bellemo B, Staffieri D, de Filippis C. Progressive sensorineural hearing loss probably induced by chronic cyclosporin A treatment after renal transplantation for focal glomerulosclerosis. Acta Otolaryngol 2004;124:603-7.
70. Maeda Y, Hwang-Verslues WW, Wei G, et al. Tumor suppressor p53 down-regulates the expression of the human hepatocyte nuclear factor 4> (HNF4>) gene. Biochem J 2008;415:289-96.
71. Wang Z, Burke PA. Modulation of hepatocyte nuclear factor-4a function by the peroxisome-proliferator-activated receptor-F co-activator-1> in the acute phase response. Biochem J 2008;415: 289-96.
72. Xie X, Liao H, Dang H, et al. Down-regulation of hepatic HNF4alpha gene expression during hyperinsulinemia via SREBPs. Mol Endocrinol 2009;23:434-43.
73. Hwang-Veslues W, Sladek FM. HFN4aVrole in drug metabolism and potential drug target? Curr Opin Pharmacol 2010;10:698-705.
74. Online Mendelian Inheritance in Man Database Homepage (OMIM). Available at: http://omim.org/. Accessed September 19, 2012.
75. The Jackson Laboratory Homepage. Available at: http://hearingimpairment. jax.org/. Accessed September 19, 2012. Disorders