Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development

Journal of Pediatric Gastroenterology and Nutrition

Volumn 52, Issue 3, 2011, Pages 339-344

  Cui, Shuang ^a   Erlichman, Jessi ^a   Russo, Pierre ^b   Haber, Barbara A ^a   Matthews, Randolph P ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

biliary atresia; cholestatic liver disease; Hirschsprung disease; liver development; zebrafish; zfhx1b

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DISOFENIN; HEPATOCYTE NUCLEAR FACTOR 1BETA; MORPHOLINO OLIGONUCLEOTIDE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; ZINC FINGER HOMEOBOX PROTEIN ZFHX1B; ZINC FINGER PROTEIN;

ALAGILLE SYNDROME; ANIMAL MODEL; ARTICLE; BILE DUCT ATRESIA; BILE DUCT INJURY; BILIARY TRACT MALFORMATION; CASE REPORT; CHILD; CHOLANGIOGRAPHY; CHOLESTASIS; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CYTOGENETICS; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GROWTH; HEMATEMESIS; HEPATOBILIARY SYSTEM; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; ILEOSTOMY; INFANT; LIVER DEVELOPMENT; MALE; MAMMAL; MOWAT WILSON SYNDROME; NEWBORN JAUNDICE; NONHUMAN; OBSTRUCTIVE JAUNDICE; PORTOENTEROSTOMY; PRIORITY JOURNAL; RESPIRATORY FAILURE; RISK FACTOR; ULTRASOUND; VERTEBRATE; WILSON DISEASE; ZEBRA FISH;

ANIMALS; BILIARY ATRESIA; BILIARY TRACT; FACIES; GENES, HOMEOBOX; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; LIVER; MALE; MENTAL RETARDATION; MICROCEPHALY; MUTATION; OLIGORIBONUCLEOTIDES, ANTISENSE; REPRESSOR PROTEINS; ZEBRAFISH; ZINC FINGERS;

DANIO RERIO; MAMMALIA; VERTEBRATA;

EID: 79952315393     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181ff2e5b     Document Type: Article

References (25)

1. Matthews RP, Russo P, Berry GT, et al. Biliary atresia associated with a fatty acid oxidation defect. J Pediatr Gastroenterol Nutr 2002;35:624-8. (Pubitemid 35417732)
2. Kohsaka T, Yuan ZR, Guo SX, et al. The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. Hepatology 2002;36(4 Pt 1):904-12.
3. Garcia-Barcelo MM, Yeung MY, Miao XP, et al. Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. Hum Mol Genet 2010;19:2917-25.
4. Leyva-Vega M, Gerfen J, Thiel BD, et al. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A 2010;152A:886-95.
5. Zweier C, Albrecht B, Mitulla B, et al. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet 2002;108:177-81.
6. Postigo AA, Depp JL, Taylor JJ, et al. Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins. EMBO J 2003;22:2453-62. (Pubitemid 36604984)
7. Postigo AA. Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway. EMBO J 2003;22:2443-52. (Pubitemid 36604983)
8. Clotman F, Jacquemin P, Plumb-Rudewiez N, et al. Control of liver cell fate decision by a gradient of TGF beta signaling modulated by Onecut transcription factors. Genes Dev 2005;19:1849-54. (Pubitemid 41186985)
9. Plumb-Rudewiez N, Clotman F, Strick-Marchand H, et al. Transcription factor HNF- 6/OC-1 inhibits the stimulation of the HNF-3alpha/Foxa1 gene by TGF-beta in mouse liver. Hepatology 2004;40:1266-74. (Pubitemid 39657000)
10. Matthews RP, Lorent K, Russo P, et al. The zebrafish onecut gene hnf-6 functions in an evolutionarily conserved genetic pathway that regulates vertebrate biliary development. Dev Biol 2004;274:245-59. (Pubitemid 39295719)
11. Lorent K, Yeo SY, Oda T, et al. Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy. Development 2004;131:5753-66. (Pubitemid 39625217)
12. Matthews RP, Plumb-Rudewiez N, Lorent K, et al. 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 2005;132:5295-306. (Pubitemid 43020183)
13. Delalande JM, Guyote ME, Smith CM, et al. Zebrafish sip1a and sip1b are essential for normal axial and neural patterning. Dev Dyn 2008;237:1060-9. (Pubitemid 351542302)
14. Clotman F, Lannoy VJ, Reber M, et al. The onecut transcription factor HNF6 is required for normal development of the biliary tract. Development 2002;129:1819-28. (Pubitemid 34874197)
15. Coffinier C, Gresh L, Fiette L, et al. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 2002;129:1829-38. (Pubitemid 34874198)
16. Wallace KN, Pack M. Unique and conserved aspects of gut development in zebrafish. Dev Biol 2003;255:12-29. (Pubitemid 36287138)
17. Matthews RP, Lorent K, Manoral-Mobias R, et al. TNF{alpha}-dependent hepatic steatosis and liver degeneration caused by mutation of zebrafish s-adenosylhomocysteine hydrolase. Development 2009;136:865-75.
18. Bassez G, Camand OJ, Cacheux V, et al. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome. Neurobiol Dis 2004;15:240-50.
19. Farber SA, Pack M, Ho SY, et al. Genetic analysis of digestive physiology using fluorescent phospholipid reporters. Science 2001;292:1385-8. (Pubitemid 32476227)
20. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007;2:42.
21. Smigiel R, Szafranska A, Czyzewska M, et al. Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. J Appl Genet 2010;51:111-3.
22. Ader T, Norel R, Levoci L, et al. Transcriptional profiling implicates TGFbeta/BMP and Notch signaling pathways in ductular differentiation of fetal murine hepatoblasts. Mech Dev 2006;123:177-94. (Pubitemid 43227944)
23. Dooley S, Hamzavi J, Ciuclan L, et al. Hepatocyte-specific Smad7 expression attenuates TGF-beta-mediated fibrogenesis and protects against liver damage. Gastroenterology 2008;135:642-59.
24. Ohashi S, Natsuizaka M, Wong GS, et al. Epidermal growth factor receptor and mutant p53 expand an esophageal cellular subpopulation capable of epithelial-tomesenchymal transition through ZEB transcription factors. Cancer Res 2010;70:4174-84.
25. Liu Y, El-Naggar S, Darling DS, et al. Zeb1 links epithelial-mesenchymal transition and cellular senescence. Development 2008;135:579-88.