An ENU-induced point mutation in the mouse Btaf1 gene causes post-gastrulation embryonic lethality and protein instability

Mechanisms of Development

Volumn 128, Issue 5-6, 2011, Pages 279-288

  Wansleeben, Carolien ^a   van Gurp, Léon ^a   de Graaf, Petra ^a   Mousson, Florence ^a   Marc Timmers, H Th ^a   Meijlink, Frits ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Btaf1; Embryogenesis; ENU mutagenesis; TFIID; Transcription

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ETHYLNITROSOUREA; TATA BINDING PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; BTAF1 GENE; CHEMICAL MUTAGENESIS; CHROMATIN; CONTROLLED STUDY; DEVELOPMENTAL GENE; DEVELOPMENTAL STAGE; EDEMA; EMBRYO DEATH; FEMALE; GASTRULATION; GENE FUNCTION; GENE INDUCTION; GENE ISOLATION; GROWTH DISORDER; HUMAN; HUMAN CELL; IN VITRO STUDY; LETHALITY; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN STABILITY; SOMITE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CHROMATIN; ETHYLNITROSOUREA; FEMALE; GASTRULATION; GENE EXPRESSION PROFILING; GENES, LETHAL; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MICE; MICE, INBRED C57BL; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTANT PROTEINS; PHENOTYPE; POINT MUTATION; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; STRUCTURAL HOMOLOGY, PROTEIN; TATA-BOX BINDING PROTEIN; TRANSCRIPTION FACTORS;

EID: 79959747991     PISSN: 09254773     EISSN: 18726356     Source Type: Journal    
DOI: 10.1016/j.mod.2011.03.002     Document Type: Article

References (28)

1. Auble D.T. The dynamic personality of tata-binding protein. Trends Biochem. Sci. 2009, 34:49-52.
2. Auble D.T., Hansen K.E., Mueller C.G., Lane W.S., Thorner J., Hahn S. Mot1, a global repressor of rna polymerase ii transcription, inhibits tbp binding to DNA by an atp-dependent mechanism. Genes Dev. 1994, 8:1920-1934.
3. Beverdam A., Brouwer A., Reijnen M., Korving J., Meijlink F. Severe nasal clefting and abnormal embryonic apoptosis in alx3/alx4 double mutant mice. Development 2001, 128:3975-3986.
4. Chen D., Hinkley C.S., Henry R.W., Huang S. Tbp dynamics in living human cells: constitutive association of tbp with mitotic chromosomes. Mol. Biol. Cell 2002, 13:276-284.
5. Chicca J.J., Auble D.T., Pugh B.F. Cloning and biochemical characterization of taf-172, a human homolog of yeast mot1. Mol. Cell. Biol. 1998, 18:1701-1710.
6. Cong R., Jiang X., Wilson C.M., Hunter M.P., Vasavada H., Bogue C.W. Hhex is a direct repressor of endothelial cell-specific molecule 1 (esm-1). Biochem. Biophys. Res. Commun. 2006, 346:535-545.
7. D'Alessio J.A., Wright K.J., Tjian R. Shifting players and paradigms in cell-specific transcription. Mol. Cell 2009, 36:924-931.
8. de Graaf P., Mousson F., Geverts B., Scheer E., Tora L., Houtsmuller A.B., Timmers H.T. Chromatin interaction of tata-binding protein is dynamically regulated in human cells. J. Cell Sci. 2010, 123:2663-2671.
9. Friedel R.H., Plump A., Lu X., Spilker K., Jolicoeur C., Wong K., Venkatesh T.R., Yaron A., Hynes M., Chen B., et al. Gene targeting using a promoterless gene trap vector (" Targeted trapping" ) is an efficient method to mutate a large fraction of genes. Proc. Natl. Acad. Sci. USA 2005, 102:13188-13193.
10. Gazdag E., Santenard A., Ziegler-Birling C., Altobelli G., Poch O., Tora L., Torres-Padilla M.E. Tbp2 is essential for germ cell development by regulating transcription and chromatin condensation in the oocyte. Genes Dev. 2009, 23:2210-2223.
11. Gregorieff A., Grosschedl R., Clevers H. Hindgut defects and transformation of the gastro-intestinal tract in tcf4(-/-)/tcf1(-/-) embryos. EMBO J. 2004, 23:1825-1833.
12. Indra A.K., Mohan W.S., Frontini M., Scheer E., Messaddeq N., Metzger D., Tora L. Taf10 is required for the establishment of skin barrier function in foetal, but not in adult mouse epidermis. Dev. Biol. 2005, 285:28-37.
13. Kasarskis A., Manova K., Anderson K.V. A phenotype-based screen for embryonic lethal mutations in the mouse. Proc. Natl. Acad. Sci. USA 1998, 95:7485-7490.
14. Klejman M.P., Pereira L.A., van Zeeburg H.J., Gilfillan S., Meisterernst M., Timmers H.T. Nc2alpha interacts with btaf1 and stimulates its atp-dependent association with tata-binding protein. Mol. Cell. Biol. 2004, 24:10072-10082.
15. Klejman M.P., Zhao X., van Schaik F.M., Herr W., Timmers H.T. Mutational analysis of btaf1-tbp interaction: btaf1 can rescue DNA-binding defective tbp mutants. Nucleic Acids Res. 2005, 33:5426-5436.
16. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative pcr and the 2(-delta delta c(t)) method. Methods 2001, 25:402-408.
17. Martianov I., Viville S., Davidson I. Rna polymerase ii transcription in murine cells lacking the tata binding protein. Science 2002, 298:1036-1039.
18. Stalder L., Muhlemann O. The meaning of nonsense. Trends Cell Biol. 2008, 18:315-321.
19. Stumpf M., Waskow C., Krotschel M., van Essen D., Rodriguez P., Zhang X., Guyot B., Roeder R.G., Borggrefe T. The mediator complex functions as a coactivator for gata-1 in erythropoiesis via subunit med1/trap220. Proc. Natl. Acad. Sci. USA 2006, 103:18504-18509.
20. Tatarakis A., Margaritis T., Martinez-Jimenez C.P., Kouskouti A., Mohan W.S., Haroniti A., Kafetzopoulos D., Tora L., Talianidis I. Dominant and redundant functions of tfiid involved in the regulation of hepatic genes. Mol. Cell 2008, 31:531-543.
21. Thomas M.C., Chiang C.M. The general transcription machinery and general cofactors. Crit. Rev. Biochem. Mol. Biol. 2006, 41:105-178.
22. Thoma N.H., Czyzewski B.K., Alexeev A.A., Mazin A.V., Kowalczykowski S.C., Pavletich N.P. Structure of the swi2/snf2 chromatin-remodeling domain of eukaryotic rad54. Nat. Struct. Mol. Biol. 2005, 12:3503-3556.
23. Tora L., Timmers H.T. The tata box regulates tata-binding protein (tbp) dynamics in vivo. Trends Biochem. Sci. 2010, 35:309-314.
24. Van Der Knaap J.A., Van Den Boom V., Kuipers J., Van Eijk M.J., Van Der Vliet P.C., Timmers H.T. The gene for human tata-binding-protein-associated factor (tafii) 170: structure, promoter and chromosomal localization. Biochem. J. 2000, 345(Pt. 3):521-527.
25. van Werven F.J., van Teeffelen H.A., Holstege F.C., Timmers H.T. Distinct promoter dynamics of the basal transcription factor tbp across the yeast genome. Nat. Struct. Mol. Biol. 2009, 16:1043-1048.
26. Wansleeben C., Feitsma H., Montcouquiol M., Kroon C., Cuppen E., Meijlink F. Planar cell polarity defects and defective vangl2 trafficking in mutants for the copii gene sec24b. Development 2010, 137:1067-1073.
27. Wansleeben C., Feitsma H., Tertoolen L., Kroon C., Guryev V., Cuppen E., Meijlink F. A novel mutant allele of Ncx1: A single amino acid substitution leads to cardiac dysfunction. Int. J. Dev. Biol. 2010, 54:1465-1471.
28. Weinert S., Bergmann N., Luo X., Erdmann B., Gotthardt M. M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere. J. Cell Biol. 2006, 173:559-570.