Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene

International Journal of Developmental Biology

Volumn 54, Issue 8-9, 2010, Pages 1259-1266

  Grzmil, Pawel ^a,b   Enkhbaatar, Zanabazar ^a   Gundsambuu, Batjargal ^a   Oidovsambuu, Odgerel ^a   Yalcin, Safak ^a   Wolf, Stephan ^a   Engel, Wolfgang ^a   Neesen, Jürgen ^a,c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b JAGIELLONIAN UNIVERSITY   (Poland)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

ADP ribozylation; BFA; Embryonic development; Gene trap; Zygotic gene activation

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE PROTEIN 2; BETA GALACTOSIDASE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; FERTILIZATION; GENE ACTIVATION; GENE AMPLIFICATION; GENE DISRUPTION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; GLYCOSYLATION; HETEROZYGOSITY; HOMOZYGOSITY; LETHALITY; MALE; MOUSE; NONHUMAN; OOCYTE; POLYADENYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REPORTER GENE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALTERNATIVE SPLICING; ANIMALS; BREFELDIN A; CELL DIVISION; EMBRYO, MAMMALIAN; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE TARGETING; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, INBRED STRAINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SYNTHESIS INHIBITORS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TIME FACTORS; ZYGOTE;

ANIMALIA; MURINAE; MUS;

EID: 77957695282     PISSN: 02146282     EISSN: None     Source Type: Journal    
DOI: 10.1387/ijdb.092959pg     Document Type: Article

References (51)

1. ADHAM IM, KHULAN J, HELD T, SCHMIDT B, MEYER BI, MEINHARDT A, ENGEL W (2008). Fas-associated factor (FAF1) is required for the early cleavagestages of mouse embryo. Mol Hum Reprod 14: 207-213.
2. ALTSCHUL SF, GISH W, MILLER W, MYERS EW, LIPMAN DJ (1990). Basic local alignment search tool. J Mol Biol 215: 403-410
3. AOKI F, WORRAD DM, SCHULTZ RM (1997). Regulation of transcriptional activity during the first and second cell cycles in the preimplantation mouse embryo. Dev Biol 181: 296-307.
4. CHEN L, GAO X (2002). Neuronal apoptosis induced by endoplasmic reticulum stress. Neurochem Res 27: 891-898
5. CHOWDHURY K, BONALDO P, TORRES M, STOYKOVA A, GRUSS P (1997). Evidence for the stochastic integration of gene trap vectors into the mouse germline. Nucleic Acids Res 25: 1531-1536.
6. CHUBB C (1992). Oligotriche and quaking gene mutations. Phenotypic effects on mouse spermatogenesis and testicular steroidogenesis. J Androl 13: 312-317.
7. CLAUDE A, ZHAO BP, KUZIEMSKY CE, DAHAN S, BERGER SJ, YAN JP, ARMOLD AD, SULLIVAN EM, MELANCON P (1999). GBF1: A novel Golgiassociated BFA resistant guanine nucleotide exchange factor that displays specificity for ADP ribosylation factor 5. J Cell Biol 146: 71-84.
8. CLAUDE A, ZHAO BP, MELANCON P (2003). Characterization of alternatively spliced and truncated forms of the Arf guanine nucleotide exchange factor GBF1 defines regions important for activity. Biochem Biophys Res Commun 303: 160-169.
9. DONALDSON JG, JACKSON CL (2000). Regulators and effectors of the ARF GTPases, Curr Opin Cell Biol 12: 475-482.
10. FOX JW, LAMPERTI ED, EKSIOGLU YZ, HONG SE, FENG Y, GRAHAM DA, SCHEFFER IE, DOBYNS WB, HIRSCH BA, RADTKE RA, BERKOVIC SF, HUTTENLOCHER PR, WALSH CA (1998). Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21: 1315-1325.
11. GARCIA-MATA R, SZUL T, ALVAREZ C, SZTUL E (2003). ADP-ribosylation factor/ COPI-dependent events at the endoplasmic reticulum-Golgi interface are regulated by the guanine nucleotide exchange factor GBF1. Mol Biol Cell 14: 2250-2261.
12. GONZALES EE, VAN DER ZEE M, DICTUS WJ, VAN DEN BIGGELAAR J (2007). Brefeldin A or monensin inhibits the 3D organizer in gastropod, polyplacophoran, and scaphopod molluscs. Dev Genes Evol 217: 105-118.
13. GUAN K, NAYERNIA K, MAIER LS, WAGNER S, DRESSEL R, LEE JH, NOLTE J, WOLF F, LI M, ENGEL W, HASENFUSS G (2006). Pluripotency of spermatogonial stem cells from adult mouse testis. Nature 440: 1199-1203.
14. GUERRINI R, DOBYNS WB, BARKOVICH AJ (2008). Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 31: 154-162.
15. GUO H, TITTLE TV, ALLEN H, MAZIARZ RT (1998). Brefeldin A-mediated apoptosis requires the activation of caspases and is inhibited by Bcl-2. Exp Cell Res. 245: 57-68.
16. HAMATANI T, KO MSH, YAMADA M, KUJI N, MIZUSAWA Y, SHOJI M, HADA T, ASADA H, MARUYAMA T, YOSHIMURA Y (2006). Global gene expression profiling of preimplantation embryos. Hum Cell 19: 98-117.
17. ISHIZAKI R, SHIN HW, MITSUHASHI H, NAKAYAMA K (2008). Redundant Roles of BIG2 and BIG1, Guanine-Nucleotide Exchange Factors for ADP-Ribosylation Factors in Membrane Traffic between the trans-Golgi Network and Endosomes. Mol Biol Cell 19: 2650-2660.
18. JACKSON CL, CASANOVA JE (2000). Turning on ARF: The Sec7 family of guanine nucleotideexchange factors. Trends Cell Biol 10: 60-67.
19. KAWAMOTO K, YOSHIDA Y, TAMAKI H, TORII S, SHINOTSUKA C, YAMASHINA S, NAKAYAMA K (2002). GBF1, a guanine nucleotide exchange factor for ADPribosylation factors, is localized to the cis-Golgi and involved in membrane association of the COPI coat. Traffic 3: 483-495.
20. KIRCHHAUSEN T (2000). Three ways to make a vesicle. Nat Rev Mol Cell Biol 1: 187-198.
21. LATHAM KE, SOLTER D, SCHULTZ RM (1992). Acquisition of a transcriptionally permissive state during the 1-cell stage of mouse embryogenesis. Dev Biol 149: 457-462.
22. LYON MF, SEARLE AG (1989). Genetic variants and strains of the laboratory mouse. Oxford University Press, Sec. Edition
23. MANOLEA F, CLAUDE A, CHUN J, ROSAS J, MELANCON P (2008). Distinct functions for Arf guanine nucleotide exchange factors at the Golgi complex: GBF1 and BIGs are required for assembly and maintenance of the Golgi stack and trans-Golgi network, respectively. Mol Biol Cell 19: 523-535
24. MANSOUR SJ, SKAUG J, ZHAO XH, GIORDANO J, SCHERER SW, MELANCON P (1999). p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Proc Natl Acad Sci USA 96: 7968-7973.
25. MORINAGA N, TSAI SC, MOSS J, VAUGHAN M (1996). Isolation of a brefeldin Ainhibited guanine nucleotide-exchange protein for ADP ribosylation factor (ARF) 1 and ARF3 that contains a Sec7-like domain. Proc Natl Acad Sci USA 93: 12856-12860.
26. MOSS J, VAUGHAN M (1998). Molecules in the ARF orbit. J Biol Chem 273: 21431-21434.
27. MOURATOU B, BIOU V, JOUBERT A, COHEN J, SHIELDS DJ, GELDNER N, JURGENS G, MELANCON P, CHEFILS J (2005). The domain architecture of large guanine nucleotide exchange factors for the small GTP-binding protein Arf. BMC Genomics 6: 20.
28. NAYERNIA K, VAUTI F, MEINHARDT A, CADENAS C, SCHWEYER S, MEYER BI, SCHWANDT I, CHOWDHURY K, ENGEL W, ARNOLD HH (2003). Inactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertility. J Biol Chem 278: 48377-48385.
29. PAN H, YU J, ZHANG L, CARPENTER A, ZHU H, LI L, MA D, YUAN J (2008). A novel small molecule regulator of guanine nucleotide exchange activity of the ADP-ribosylation factor and golgi membrane trafficking. J Biol Chem 283: 31087-31096.
30. RAMAEN O, JOUBERT A, SIMISTER P, BELGAREH-TOUZE N, OLIVARESSANCHEZ MC, ZEEH JC, CHANTALAT S, GOLINELLI-COHEN MP, JACKSON CL, BIOU V, CHERFILS J (2007). Interactions between conserved domains within homodimers in the BIG1, BIG2, and GBF1 Arf guanine nucleotide exchange factors. J Biol Chem 282: 28834-28842.
31. SALMINEN M, MEYER BI, GRUSS P (1998). Efficient polyA trap approach allows the capture of genes specifically active in differentiated embryonic stem cells and in mouse embryos. Dev Dyn 212: 323-333.
32. SCHULTZ J, MILPETZ F, BORK P, PONTING CP (1998). SMART, a simple modular architecture research tool: identification of signaling domains. Proc Natl Acad Sci USA 95: 5857-5864.
33. SCHULTZ JF, MAYERNIK L, ROUT UK, ARMANT DR (1997). Integrin trafficking regulates adhesion to fibronectin during differentiation of mouse peri-implantation blastocysts. Dev Genet 21: 31-43.
34. SCHULTZ RM (2002). The molecular foundations of the maternal to zygotic transition in the preimplantation embryo. Hum Reprod Update 8:323-331.
35. SHEEN VL, GANESH VS, TOPCU M, SEBIRE G, BODELL A, HILL RS, GRANT PE, SHUGART YY, IMITOLA J, KHOURY SJ, GUERRINI R, WALSH CA (2004). Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 36: 69-76.
36. SHEN X, HONG MS, MOSS J, VAUGHAN M (2007). BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein, is required for correct glycosylation and function of integrin beta1. Proc Natl Acad Sci USA 104: 1230-1235.
37. SHEN X, XU KF, FAN Q, PACHECO-RODRIGUEZ G, MOSS J, VAUGHAN M (2006). Association of brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2) with recycling endosomes during transferrin uptake. Proc Natl Acad Sci USA 103: 2635-2640.
38. SHIN HW, NAKAYAMA K (2004). Guanine nucleotide-exchange factors for arf GTPases: their diverse functions in membrane traffic. J Biochem 136: 761-767
39. SHIN HW, MORINAGA N, NODA M, NAKAYAMA K (2004). BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity. Mol Biol Cell 15: 5283-5294.
40. SHINOTSUKA C, WAGURI S, WAKASUGI M, UCHIYAMA Y, NAKAYAMA K (2002a). Dominant-negative mutant of BIG2, an ARF-guanine nucleotide exchange factor, specifically affects membrane trafficking from the trans-Golgi network through inhibiting membrane association of AP-1 and GGA coat proteins. Biochem Biophys Res Commun 294: 254-260.
41. SHINOTSUKA C, YOSHIDA Y, KAWAMOTO K, TAKATSU H, NAKAYAMA K (2002b). Overexpression of an ADP-ribosylation factor-guanine nucleotide exchange factor, BIG2, uncouples brefeldin A-induced adaptor protein-1 coat dissociation and membrane tubulation. J Biol Chem 277: 9468-9473.
42. SKOP AR, BERGMANN D, MOHLER WA, WHITE JG (2001). Completion of cytokinesis in C. elegans requires a brefeldin A-sensitive membrane accumulation at the cleavage furrow apex. Curr Biol 11: 735-746
43. SPALICE A, PARISI P, NICITA F, PIZZARDI G, DEL BALZO F, IANNETTI P (2009). Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr 98: 421-433
44. SZUL T, GRABSKI R, LYONS S, MOROHASHI Y, SHESTOPAL S, LOWE M, SZTUL E (2007). Dissecting the role of the ARF guanine nucleotide exchange factor GBF1 in Golgi biogenesis and protein trafficking. J Cell Sci 120: 3929-3940
45. THOMPSON EM, LEGOUY E, RENARD JP (1998). Mouse embryos do not wait for the MBT: chromatin and RNA polymerase remodeling in genome activation at the onset of development. Dev Genet 22: 31-42.
46. TOGAWA A, MORINAGA N, OGASAWARA M, MOSS J, VAUGHAN M (1999). Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors, J Biol Chem 274: 12308-12315.
47. VERNET M, BONNEROT C, BRIAND P, NICOLAS JF (1992). Changes in permissiveness for the expression of microinjected DNA during the first cleavages of mouse embryos. Mech Dev 36: 129-139.
48. DE WIT MC, DE COO IF, HALLEY DJ, LEQUIN MH, MANCINI GM (2009, in press). Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. Neurogenetics. 10: 333-336 (doi: 10.1007/s10048-009-0192-2)
49. YAMAJI R, ADAMIK R, TAKEDA K, TOGAWA A, PACHECO-RODRIGUEZ G, FERRANS VJ, MOSS J, VAUGHAN M (2000). Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADPribosylation factors in a macromolecular complex. Proc Natl Acad Sci USA 97: 2567-2572.
50. ZHAO X, CLAUDE A, CHUN J, SHIELDS DJ, PRESLEY JF, MELANCON P (2006). GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic. J Cell Sci 119: 3743-3753.
51. ZHAO X, LASELL TKR, MELANCON P (2002). Localization of large ADPribosylation factor-guanine nucleotide exchange factors to different Golgi compartments: evidence for distinct functions in protein traffic. Mol Biol Cell 13: 119-133.