Evidence from human and zebrafish That GPC1 is a biliary atresia susceptibility gene

Gastroenterology

Volumn 144, Issue 5, 2013, Pages

  Cui, Shuang ^a   Leyva Vega, Melissa ^a   Tsai, Ellen A ^b   Eauclaire, Steven F ^a   Glessner, Joseph T ^b   Hakonarson, Hakon ^b   Devoto, Marcella ^b,c   Haber, Barbara A ^a,b   Spinner, Nancy B ^b   Matthews, Randolph P ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Animal Model; Bile Duct Growth and Development; GWA; Susceptibility Loci

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CYCLOPAMINE; GLYPICAN 1; SONIC HEDGEHOG PROTEIN;

ANIMAL TISSUE; ARTICLE; BILE DUCT ATRESIA; CHROMOSOME 12Q; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE EXPRESSION; GENE SILENCING; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; LIVER; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

EID: 84876484277     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2013.01.022     Document Type: Article

References (66)

1. A. Lachaux, B. Descos, H. Plauchu Familial extrahepatic biliary atresia J Pediatr Gastroenterol Nutr 7 1988 280 283
2. Y. Poovorawan, V. Chongsrisawat, C. Tanunytthawongse Extrahepatic biliary atresia in twins: zygosity determination by short tandem repeat loci J Med Assoc Thai 79 Suppl 1 1996 S119 S124
3. B.M. Smith, J.M. Laberge, R. Schreiber Familial biliary atresia in three siblings including twins J Pediatr Surg 26 1991 1331 1333
4. T.R. Silveira, F.M. Salzano, E.R. Howard Extrahepatic biliary atresia and twinning Braz J Med Biol Res 24 1991 67 71
5. M. Davenport, S.A. Tizzard, J. Underhill The biliary atresia splenic malformation syndrome: a 28-year single-center retrospective study J Pediatr 149 2006 393 400
6. M.M. Garcia-Barcelo, M.Y. Yeung, X.P. Miao Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2 Hum Mol Genet 19 2010 2917 2925
7. P. Schon, K. Tsuchiya, D. Lenoir Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia Hum Genet 110 2002 157 165
8. E. Zeggini, L.J. Scott, R. Saxena Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes Nat Genet 40 2008 638 645
9. M.F. Moffatt, M. Kabesch, L. Liang Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma Nature 448 2007 470 473
10. D. Ma, D. Salyakina, J.M. Jaworski A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 Ann Hum Genet 73 2009 263 273
11. R.P. Matthews Zebrafish as a model system for the study of liver development and disease I.M. Arias, H.J. Alter, J.L. Boyer, The liver: biology and pathobiology 5th ed. 2009 Wiley Hoboken, NJ 1067 1074
12. R.P. Matthews, K. Lorent, P. Russo The zebrafish onecut gene hnf-6 functions in an evolutionarily conserved genetic pathway that regulates vertebrate biliary development Dev Biol 274 2004 245 259
13. R.P. Matthews, K. Lorent, M. Pack Transcription factor onecut3 regulates intrahepatic biliary development in zebrafish Dev Dyn 237 2008 124 131
14. K. Lorent, S.Y. Yeo, T. Oda Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy Development 131 2004 5753 5766
15. R.P. Matthews, N. Plumb-Rudewiez, K. Lorent Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6 Development 132 2005 5295 5306
16. S. Cui, J. Erlichman, P. Russo Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development J Pediatr Gastroenterol Nutr 52 2011 339 344
17. R.P. Matthews, S.F. Eauclaire, M. Mugnier DNA hypomethylation causes bile duct defects in zebrafish and is a distinguishing feature of infantile biliary atresia Hepatology 53 2011 905 914
18. K.C. Sadler, A. Amsterdam, C. Soroka A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease Development 132 2005 3561 3572
19. M. Leyva-Vega, J. Gerfen, B.D. Thiel Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3 Am J Med Genet A 152A 2010 886 895
20. C. Kirn-Safran, M.C. Farach-Carson, D.D. Carson Multifunctionality of extracellular and cell surface heparan sulfate proteoglycans Cell Mol Life Sci 66 2009 3421 3434
21. S. Grisaru, D. Cano-Gauci, J. Tee Glypican-3 modulates BMP- and FGF-mediated effects during renal branching morphogenesis Dev Biol 231 2001 31 46
22. D. Yan, X. Lin Drosophila glypican Dally-like acts in FGF-receiving cells to modulate FGF signaling during tracheal morphogenesis Dev Biol 312 2007 203 216
23. D. Yan, X. Lin Opposing roles for glypicans in Hedgehog signalling Nat Cell Biol 10 2008 761 763
24. F.A. Lisboa, J. Warren, G. Sulkowski Pregnancy-specific glycoprotein 1 induces endothelial tubulogenesis through interaction with cell surface proteoglycans J Biol Chem 286 2011 7577 7586
25. T.H. Shaikh, X. Gai, J.C. Perin High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications Genome Res 19 2009 1682 1690
26. J.T. Glessner, K. Wang, G. Cai Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Nature 459 2009 569 573
27. S. Cui, L.M. Capecci, R.P. Matthews Disruption of planar cell polarity activity leads to developmental biliary defects Dev Biol 351 2011 229 241
28. M. Westerfield The zebrafish book. A guide for the laboratory use of zebrafish (Danio rerio) 2000 University of Oregon Press
29. S. Cui, S.F. EauClaire, R.P. Matthews Interferon-gamma directly mediates developmental biliary defects Zebrafish 2013 Feb 28 [Epub ahead of print]
30. A. Omenetti, L.M. Bass, R.A. Anders Hedgehog activity, epithelial-mesenchymal transitions, and biliary dysmorphogenesis in biliary atresia Hepatology 53 2011 1246 1258
31. S.A. Bergeron, L.A. Milla, R. Villegas Expression profiling identifies novel Hh/Gli-regulated genes in developing zebrafish embryos Genomics 91 2008 165 177
32. T. Kohsaka, Z.R. Yuan, S.X. Guo The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia Hepatology 36 2002 904 912
33. A. Davit-Spraul, C. Baussan, B. Hermeziu CFC1 gene involvement in biliary atresia with polysplenia syndrome J Pediatr Gastroenterol Nutr 46 2008 111 112
34. C. Arikan, A. Berdeli, F. Ozgenc Positive association of macrophage migration inhibitory factor gene-173G/C polymorphism with biliary atresia J Pediatr Gastroenterol Nutr 42 2006 77 82
35. H.C. Lee, T.Y. Chang, C.Y. Yeung Genetic variation in the vascular endothelial growth factor gene is associated with biliary atresia J Clin Gastroenterol 44 2010 135 139
36. H.C. Lee, T.Y. Chang, C.Y. Yeung Association of interferon-gamma gene polymorphisms in Taiwanese children with biliary atresia J Clin Immunol 30 2011 68 73
37. H.C. Lee, T.Y. Chang, C.Y. Yeung Genetic variability of interleukin4 gene in Taiwanese children with biliary atresia Cytokine 57 2012 402 405
38. H.C. Lee, T.Y. Chang, C.Y. Yeung Association of polymorphisms in the Interleukin-18 gene with susceptibility to biliary atresia J Pediatr Gastroenterol Nutr 52 2011 607 611
39. R.P. Matthews, P. Russo, G.T. Berry Biliary atresia associated with a fatty acid oxidation defect J Pediatr Gastroenterol Nutr 35 2002 624 628
40. F. Hildebrandt, T. Benzing, N. Katsanis Ciliopathies N Engl J Med 364 2011 1533 1543
41. T. Masyuk, A. Masyuk, N. LaRusso Cholangiociliopathies: genetics, molecular mechanisms and potential therapies Curr Opin Gastroenterol 25 2009 265 271
42. F. Clotman, V.J. Lannoy, M. Reber The onecut transcription factor HNF6 is required for normal development of the biliary tract Development 129 2002 1819 1828
43. C. Coffinier, L. Gresh, L. Fiette Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta Development 129 2002 1829 1838
44. A.R. Cullinane, A. Straatman-Iwanowska, A. Zaucker Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization Nat Genet 42 2010 303 312
45. P. Gissen, C.A. Johnson, N.V. Morgan Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome Nat Genet 36 2004 400 404
46. V.V. Kalinichenko, Y. Zhou, D. Bhattacharyya Haploinsufficiency of the mouse Forkhead Box f1 gene causes defects in gall bladder development J Biol Chem 277 2002 12369 12374
47. A.P. Feranchak, R.J. Sokol Cholangiocyte biology and cystic fibrosis liver disease Semin Liver Dis 21 2001 471 488
48. F.J. Suchy Neonatal cholestasis Pediatr Rev 25 2004 388 396
49. M. Nicolaou, E.J. Andress, J.K. Zolnerciks Canalicular ABC transporters and liver disease J Pathol 226 2012 300 315
50. K.D. Setchell, J.E. Heubi Defects in bile acid biosynthesis - diagnosis and treatment J Pediatr Gastroenterol Nutr 43 Suppl 1 2006 S17 S22
51. H.B. Schonthaler, V.C. Fleisch, O. Biehlmaier The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles Development 135 2008 387 399
52. S.F. Eauclaire, S. Cui, L. Ma Mutations in vacuolar H(+)-ATPase subunits lead to biliary developmental defects in zebrafish Dev Biol 365 2012 434 444
53. B.R. Lu, S.M. Brindley, R.M. Tucker Alpha-enolase autoantibodies cross-reactive to viral proteins in a mouse model of biliary atresia Gastroenterology 139 2010 1753 1761
54. P. Chagnon, J. Michaud, G. Mitchell A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis Am J Hum Genet 71 2002 1443 1449
55. N.T. Henriksen, F. Langmark, S.J. Sorland Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies Acta Paediatr Scand 66 1977 7 15
56. D. Ellinghaus, T. Folseraas, K. Holm Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4 Hepatology 2012 Jul 23 [Epub ahead of print]
57. T. Folseraas, E. Melum, P. Rausch Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci J Hepatol 57 2012 366 375
58. E. Melum, A. Franke, C. Schramm Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci Nat Genet 43 2011 17 19
59. T.H. Karlsen, A. Franke, E. Melum Genome-wide association analysis in primary sclerosing cholangitis Gastroenterology 138 2010 1102 1111
60. X. Liu, P. Invernizzi, Y. Lu Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis Nat Genet 42 2010 658 660
61. G.M. Hirschfield, X. Liu, C. Xu Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants N Engl J Med 360 2009 2544 2555
62. G.F. Mells, J.A. Floyd, K.I. Morley Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis Nat Genet 43 2011 329 332
63. M.I. Capurro, P. Xu, W. Shi Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding Dev Cell 14 2008 700 711
64. S.J. Zweers, K.A. Booij, M. Komuta The human gallbladder secretes fibroblast growth factor 19 into bile: towards defining the role of fibroblast growth factor 19 in the enterobiliary tract Hepatology 55 2012 575 583
65. S.D. Sackett, Y. Gao, S. Shin Foxl1 promotes liver repair following cholestatic injury in mice Lab Invest 89 2009 1387 1396
66. S.D. Sackett, Z. Li, R. Hurtt Foxl1 is a marker of bipotential hepatic progenitor cells in mice Hepatology 49 2009 920 929