Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome

Liver International

Volumn 28, Issue 3, 2008, Pages 377-384

  Clotman, Frédéric ^a   Libbrecht, Louis ^b   Killingsworth, Murray C ^c   Loo, Christine C K ^c   Roskams, Tania ^b   Lemaigre, Frédéric P ^a,d  

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c SYDNEY SOUTH WEST AREA HEALTH SERVICE   (Australia)

^d Hormone and Metabolic Research Unit   (Brazil)

Author keywords

Cholangiocytes; Ductal plate malformations; Hepatic differentiation; Meckel syndrome; Primary cilium

Indexed keywords

ARTICLE; BILE DUCT MALFORMATION; CELL DIFFERENTIATION; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EUKARYOTIC FLAGELLUM; FETUS; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; LIVER CELL; LIVER DEVELOPMENT; MECKEL SYNDROME;

ABNORMALITIES, MULTIPLE; BILE DUCTS, INTRAHEPATIC; CELL DIFFERENTIATION; CILIA; FETUS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER; SYNDROME;

EID: 39549104268     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2007.01617.x     Document Type: Article

References (23)

1. Desmet VJ. Congenital diseases of intrahepatic bile ducts: Variations on the theme "ductal plate malformation". Hepatology 1992; 16: 1069-83.
2. Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 2000; 3: 568-83.
3. Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE. Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet Suppl 1987; 3: 395-10.
4. Germain L, Blouin MJ, Marceau N. Biliary epithelial and hepatocytic cell lineage relationships in embryonic rat liver as determined by the differential expression of cytokeratins, alpha-fetoprotein, albumin, and cell surface-exposed components. Cancer Res 1988; 48: 4909-18.
5. Lemaigre F, Zaret KS. Liver development update: New embryo models, cell lineage control, and morphogenesis. Curr Opin Genet Dev 2004; 14: 582-90.
6. Lemaigre FP. Development of the biliary tract. Mech Dev 2003; 120: 81-87.
7. Sergi C, Kahl P, Otto HF. Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome. Am J Pathol 2000; 156: 1589-98.
8. Shiojiri N. Development and differentiation of bile ducts in the mammalian liver. Microsc Res Tech 1997; 39: 328-35.
9. Terada T, Nakanuma Y. Detection of apoptosis and expression of apoptosis-related proteins during human intrahepatic bile duct development. Am J Pathol 1995; 146: 67-74.
10. Awasthi A, Das A, Srinivasan R, Joshi K. Morphological and immunohistochemical analysis of ductal plate malformation: Correlation with fetal liver. Histopathology 2004; 45: 260-7.
11. Kyttala M, Tallila J, Salonen R, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006; 38: 155-7.
12. Smith UM, Consugar M, Tee LJ, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006; 38: 191-6.
13. Baala L, Audollent S, Martinovic J, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007; 81: 170-9.
14. Arts HH, Doherty D, van Beersum SE, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007; 39: 882-8.
15. Delous M, Baala L, Salomon R, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007; 39: 875-81.
16. Mykytyn K. Clinical variability in ciliary disorders. Nat Genet 2007; 39: 818-9.
17. Dawe HR, Smith UM, Cullinane AR, et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Mol Genet 2007; 16: 173-86.
18. Huang BQ, Masyuk TV, Muff MA, Tietz PS, Masyuk AI, Larusso NF. Isolation and characterization of cholangiocyte primary cilia. Am J Physiol Gastrointest Liver Physiol 2006; 291: G500-9.
19. Clotman F, Libbrecht L, Gresh L, et al. Hepatic artery malformations associated with a primary defect in intrahepatic bile duct development. J Hepatol 2003; 39: 686-92.
20. Loo CK, Freeman B, Killingsworth M, Wu XJ. An immunohistochemical study of human fetal liver in the Meckel-Gruber syndrome. Pathology 2005; 37: 137-43.
21. 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.
22. 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.
23. Van Eyken P, Sciot R, Desmet VJ. A cytokeratin immunohistochemical study of cholestatic liver disease: Evidence that hepatocytes can express 'bile duct-type' cytokeratins. Histopathology 1989; 15: 125-35.