Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease

Journal of Molecular Medicine

Volumn 93, Issue 2, 2015, Pages 165-176

  Levic, Daniel S ^a,b   Minkel, J R ^a   Wang, Wen Der ^a,c   Rybski, Witold M ^a   Melville, David B ^a,b,d   Knapik, Ela W ^a,b  

^a VANDERBILT UNIVERSITY   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL CHIAYI UNIVERSITY   (Taiwan)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Anderson disease; Chylomicron retention disease; Chylomicrons; COPII; Lipid absorption; SAR1B

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CHYLOMICRON; PROCOLLAGEN; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN;

ANDERSON DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DEVELOPMENT; CARTILAGE; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; DIGESTIVE SYSTEM; DISEASE MODEL; EMBRYO; EMBRYO DEVELOPMENT; FAT INTAKE; GENE; GENE EXPRESSION; GENE SILENCING; GENETIC CONSERVATION; INTESTINE CELL; LIPID ABSORPTION; LIVER; MALABSORPTION; MESENCEPHALON; MORPHOGENESIS; NONHUMAN; PANCREAS; PATHOPHYSIOLOGY; RHOMBENCEPHALON; SAR1B GENE; SKELETON; ZEBRA FISH; ANIMAL; BONE; BRAIN; DEFICIENCY; EMBRYOLOGY; GASTROINTESTINAL TRACT; GENE EXPRESSION REGULATION; GENETICS; HUMAN; HYPOBETALIPOPROTEINEMIA; IMMUNOHISTOCHEMISTRY; LIPID METABOLISM; METABOLISM; ORGANOGENESIS; PHENOTYPE; TRANSGENIC ANIMAL;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; BODY PATTERNING; BONE AND BONES; BRAIN; DISEASE MODELS, ANIMAL; GASTROINTESTINAL TRACT; GENE EXPRESSION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCKDOWN TECHNIQUES; HUMANS; HYPOBETALIPOPROTEINEMIAS; IMMUNOHISTOCHEMISTRY; LIPID METABOLISM; MALABSORPTION SYNDROMES; MONOMERIC GTP-BINDING PROTEINS; ORGANOGENESIS; PHENOTYPE; ZEBRAFISH;

EID: 84922466650     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-014-1247-x     Document Type: Article

References (39)

1. Abumrad NA, Davidson NO (2012) Role of the gut in lipid homeostasis. Physiol Rev 92:1061–1085
2. Iqbal J, Hussain MM (2009) Intestinal lipid absorption. Am J Physiol Endocrinol Metab 296:E1183–E1194
3. Miller EA, Barlowe C (2010) Regulation of coat assembly—sorting things out at the ER. Curr Opin Cell Biol 22:447–453
4. Siddiqi SA, Gorelick FS, Mahan JT, Mansbach CM (2003) COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle. J Cell Sci 116:415–427
5. Walther TC, Farese RV (2012) Lipid droplets and cellular lipid metabolism. Annu Rev Biochem 81:687–714
6. Mansbach CM, Siddiqi SA (2010) The biogenesis of chylomicrons. Annu Rev Physiol 72:315–333
7. Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S et al (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 34:29–31
8. Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabès JP, Abifadel M, Aparicio T, Guenedet JC, Bruckert E, Boileau C et al (2011) Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson’s disease (chylomicron retention disease). Orphanet J Rare Dis 6:1
9. Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl M-C, Labarge S et al (2009) Chylomicron retention disease: a long term study of two cohorts. Mol Genet Metab 97:136–142
10. Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué J et al (2008) Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet 74:546–552
11. Bernard G, Panisset M, Sadikot AF, Chouinard S (2010) Chylomicron retention disease: dystonia as a new clinical feature. Mov Disord 25:1755–1756
12. Schlegel A, Stainier DYR (2006) Microsomal triglyceride transfer protein is required for yolk lipid utilization and absorption of dietary lipids in zebrafish larvae. Biochemistry 45:15179–15187
13. Anderson JL, Carten JD, Farber SA (2011) Chapter 5—zebrafish lipid metabolism: from mediating early patterning to the metabolism of dietary fat and cholesterol. In: H. William Detrich MW and LIZ (ed) Methods Cell Biol. Academic Press, pp 111–141
14. Carten JD, Bradford MK, Farber SA (2011) Visualizing digestive organ morphology and function using differential fatty acid metabolism in live zebrafish. Dev Biol 360:276–285
15. Maddison LA, Chen W (2012) Nutrient excess stimulates β-cell neogenesis in zebrafish. Diabetes 61:2517–2524
16. Walters JW, Anderson JL, Bittman R, Pack M, Farber SA (2012) Visualization of lipid metabolism in the zebrafish intestine reveals a relationship between NPC1L1- mediated cholesterol uptake and dietary fatty acid. Chem Biol 19:913–925
17. Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF (1995) Stages of embryonic development of the zebrafish. Dev Dyn 203:253–310
18. Korzh S, Pan X, Garcia-Lecea M, Winata C, Pan X, Wohland T, Korzh V, Gong Z (2008) Requirement of vasculogenesis and blood circulation in late stages of liver growth in zebrafish. BMC Dev Biol 8:84
19. Delporte FM, Pasque V, Devos N, Manfroid I, Voz ML, Motte P, Biemar F, Martial JA, Peers B (2008) Expression of zebrafish pax6b in pancreas is regulated by two enhancers containing highly conserved cis-elements bound by PDX1, PBX and PREP factors. BMC Dev Biol 8:53
20. Sarmah S, Barrallo-Gimeno A, Melville DB, Topczewski J, Solnica-Krezel L, Knapik EW (2010) Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis. PLoS One 4:e10367. doi: 10.1371/journal.pone.0010367
21. Sachdev SW, Dietz UH, Oshima Y, Lang MR, Knapik EW, Hiraki Y, Shukunami C (2001) Sequence analysis of zebrafish chondromodulin-1 and expression profile in the notochord and chondrogenic regions during cartilage morphogenesis. Mech Dev 105:157–162
22. Montero-Balaguer M, Lang MR, Sachdev SW, Knappmeyer C, Stewart RA, De La Guardia A, Hatzopoulos AK, Knapik EW (2006) The mother superior mutation ablates foxd3 activity in neural crest progenitor cells and depletes neural crest derivatives in zebrafish. Dev Dyn 235:3199–3212
23. Bradford Y, Conlin T, Dunn N, Fashena D, Frazer K, Howe DG, Knight J, Mani P, Martin R, Moxon SAT et al (2011) ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res 39:D822–D829
24. Müller II, Knapik EW, Hatzopoulos AK (2006) Expression of the protein related to Dan and Cerberus gene—prdc—during eye, pharyngeal arch, somite, and swim bladder development in zebrafish. Dev Dyn 235:2881–2888
25. Müller II, Melville DB, Tanwar V, Rybski WM, Mukherjee A, Shoemaker MB, Wang W-D, Schoenhard JA, Roden DM, Darbar D et al (2013) Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated gene GREM2 regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythm. Dis Model Mech 6:332–341
26. Granero-Moltó F, Sarmah S, O’Rear L, Spagnoli A, Abrahamson D, Saus J, Hudson BG, Knapik EW (2008) Goodpasture antigen-binding protein and its spliced variant, ceramide transfer protein, have different functions in the modulation of apoptosis during zebrafish development. J Biol Chem 283:20495–20504
27. Melville DB, Montero-Balaguer M, Levic DS, Bradley K, Smith JR, Hatzopoulos AK, Knapik EW (2011) The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis. Dis Model Mech 4:763–776
28. Charcosset M, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A (2008) Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. Mol Genet Metab 93:74–84
29. Shin D, Shin CH, Tucker J, Ober EA, Rentzsch F, Poss KD, Hammerschmidt M, Mullins MC, Stainier DYR (2007) Bmp and Fgf signaling are essential for liver specification in zebrafish. Development 134:2041–2050
30. Barrallo-Gimeno A, Holzschuh J, Driever W, Knapik EW (2004) Neural crest survival and differentiation in zebrafish depends on mont blanc/tfap2a gene function. Development 131:1463–1477
31. Lang MR, Lapierre LA, Frotscher M, Goldenring JR, Knapik EW (2006) Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nat Genet 38:1198–1203
32. Unlu G, Levic DS, Melville DB, Knapik EW (2014) Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases. Int J Biochem Cell Biol 47:57–67
33. Siddiqi S, Siddiqi SA, Mansbach CM (2010) Sec24C is required for docking the prechylomicron transport vesicle with the Golgi. J Lipid Res 51:1093–1100
34. Melville DB, Knapik EW (2011) Traffic jams in fish bones: ER-to-Golgi protein transport during zebrafish development. Cell Adhes Migr 5:114–118
35. Vacaru A, Unlu G, Spitzner M, Mione M, Knapik E, Sadler K (2014) In vivo cell biology using zebrafish—providing insights into vertebrate development and disease. J Cell Sci 127:485–495
36. Schlombs K, Wagner T, Scheel J (2003) Site-1 protease is required for cartilage development in zebrafish. PNAS 100:14024–14029
37. Zhu J, Lee B, Buhman KK, Cheng J-X (2009) A dynamic, cytoplasmic triacylglycerol pool in enterocytes revealed by ex vivo and in vivo coherent anti-Stokes Raman scattering imaging. J Lipid Res 50:1080–1089
38. Roy CC, Levy E, Green PH, Sniderman A, Letarte J, Buts JP, Orquin J, Brochu P, Weber AM, Morin CL et al (1987) Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B chylomicron retention disease. Gastroenterology 92:390–399
39. Dannoura AH, Berriot-Varoqueaux N, Amati P, Abadie V, Verthier N, Schmitz J, Wetterau JR, Samson-Bouma M-E, Aggerbeck LP (1999) Anderson’s disease exclusion of apolipoprotein and intracellular lipid transport genes. Arterioscler Thromb Vasc Biol 19:2494–2508