Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

Gene

Volumn 460, Issue 1-2, 2010, Pages 20-29

  Purvis, Tracey L ^a   Hearn, Tom ^a   Spalluto, Cosma ^a   Knorz, Victoria J ^a   Hanley, Karen Piper ^a   Sanchez Elsner, Tilman ^a   Hanley, Neil A ^a   Wilson, David I ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Cilia; GC box; Promoter; Transcription; X box

Indexed keywords

CELL PROTEIN; PROTEIN ALMS1; REGULATORY FACTOR X; RNA; TRANSCRIPTION FACTOR SP1; UNCLASSIFIED DRUG; ALMS1 PROTEIN, HUMAN; CARRIER PROTEIN; DNA BINDING PROTEIN; PROTEIN; REGULATORY FACTOR X TRANSCRIPTION FACTORS; RFX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; ENZYME ASSAY; GEL MOBILITY SHIFT ASSAY; GENE CONTROL; GENE EXPRESSION PROFILING; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; GROWTH DISORDER; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROMOTER REGION; RNA INTERFERENCE; TRANSCRIPTION REGULATION; ADULT; ALSTROM SYNDROME; CELL CULTURE; CHROMOSOME MAP; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MUTATION; PHYSIOLOGY; TRANSCRIPTION INITIATION SITE;

ADULT; ALSTROM SYNDROME; CARRIER PROTEINS; CELLS, CULTURED; CHROMOSOME MAPPING; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HUMANS; MUTATION; PROMOTER REGIONS, GENETIC; PROTEINS; RNA INTERFERENCE; SP1 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTORS; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION, GENETIC;

EID: 77953156491     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2010.03.015     Document Type: Article

References (44)

1. Aftab S., Semenec L., Chu J.S., Chen N. Identification and characterization of novel human tissue-specific RFX transcription factors. BMC Evol Biol 2008, 8:226.
2. Ait-Lounis A., Baas D., Barras E., Benadiba C., Charollais A., Nlend Nlend R., Liegeois D., Meda P., Durand B., Reith W. Novel function of the ciliogenic transcription factor RFX3 in development of the endocrine pancreas. Diabetes 2007, 56:950-959.
3. Alstrom C.H., Hallgren B., Nilsson L.B., Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 1959, 34:1-35.
4. Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 2003, 426:570-574.
5. Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., Kim J.C., Ross A.J., Eichers E.R., Teslovich T.M., Mah A.K., Johnsen R.C., Cavender J.C., Lewis R.A., Leroux M.R., Beales P.L., Katsanis N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003, 425:628-633.
6. Baas D., Meiniel A., Benadiba C., Bonnafe E., Meiniel O., Reith W., Durand B. A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells. Eur J Neurosci 2006, 24:1020-1030.
7. Badano J.L., Mitsuma N., Beales P.L., Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006, 7:125-148.
8. Bonnafe E., Touka M., AitLounis A., Baas D., Barras E., Ucla C., Moreau A., Flamant F., Dubruille R., Couble P., Collignon J., Durand B., Reith W. The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. Mol Cell Biol 2004, 24:4417-4427.
9. Carninci P., Sandelin A., Lenhard B., Katayama S., Shimokawa K., Ponjavic J., Semple C.A., Taylor M.S., Engstrom P.G., Frith M.C., Forrest A.R., Alkema W.B., Tan S.L., Plessy C., Kodzius R., Ravasi T., Kasukawa T., Fukuda S., Kanamori-Katayama M., Kitazume Y., Kawaji H., Kai C., Nakamura M., Konno H., Nakano K., Mottagui-Tabar S., Arner P., Chesi A., Gustincich S., Persichetti F., Suzuki H., Grimmond S.M., Wells C.A., Orlando V., Wahlestedt C., Liu E.T., Harbers M., Kawai J., Bajic V.B., Hume D.A., Hayashizaki Y. Genome-wide analysis of mammalian promoter architecture and evolution. Nat Genet 2006, 38:626-635.
10. Collin G.B., Cyr E., Bronson R., Marshall J.D., Gifford E.J., Hicks W., Murray S.A., Zheng Q.Y., Smith R.S., Nishina P.M., Naggert J.K. Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet 2005, 14:2323-2333.
11. Collin G.B., Marshall J.D., Ikeda A., So W.V., Russell-Eggitt I., Maffei P., Beck S., Boerkoel C.F., Sicolo N., Martin M., Nishina P.M., Naggert J.K. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002, 31:74-78.
12. Dubruille R., Laurencon A., Vandaele C., Shishido E., Coulon-Bublex M., Swoboda P., Couble P., Kernan M., Durand B. Drosophila regulatory factor X is necessary for ciliated sensory neuron differentiation. Development 2002, 129:5487-5498.
13. Efimenko E., Bubb K., Mak H.Y., Holzman T., Leroux M.R., Ruvkun G., Thomas J.H., Swoboda P. Analysis of xbx genes in C. elegans. Development 2005, 132:1923-1934.
14. Emery P., Durand B., Mach B., Reith W. RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res 1996, 24:803-807.
15. Fejes-Toth K., Sotirova V., Sachidanandam R., Assaf G., Hannon G.J., Kapranov P., Foissac S., Willingham A.T., Duttagupta R., Dumais E., Gingeras T.R. Post-transcriptional processing generates a diversity of 5'-modified long and short RNAs. Nature 2009, 457:1028-1032.
16. Gajiwala K.S., Chen H., Cornille F., Roques B.P., Reith W., Mach B., Burley S.K. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. Nature 2000, 403:916-921.
17. Genter M.B., Van Veldhoven P.P., Jegga A.G., Sakthivel B., Kong S., Stanley K., Witte D.P., Ebert C.L., Aronow B.J. Microarray-based discovery of highly expressed olfactory mucosal genes: potential roles in the various functions of the olfactory system. Physiol Genomics 2003, 16:67-81.
18. Giehl K., Skripczynski B., Mansard A., Menke A., Gierschik P. Growth factor-dependent activation of the Ras-Raf-MEK-MAPK pathway in the human pancreatic carcinoma cell line PANC-1 carrying activated K-ras: implications for cell proliferation and cell migration. Oncogene 2000, 19:2930-2942.
19. Graser S., Stierhof Y.D., Lavoie S.B., Gassner O.S., Lamla S., Le Clech M., Nigg E.A. Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol 2007, 179:321-330.
20. Haycraft C.J., Swoboda P., Taulman P.D., Thomas J.H., Yoder B.K. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development 2001, 128:1493-1505.
21. Hearn T., Renforth G.L., Spalluto C., Hanley N.A., Piper K., Brickwood S., White C., Connolly V., Taylor J.F., Russell-Eggitt I., Bonneau D., Walker M., Wilson D.I. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002, 31:79-83.
22. Hearn T., Spalluto C., Phillips V.J., Renforth G.L., Copin N., Hanley N.A., Wilson D.I. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 2005, 54:1581-1587.
23. Horvath G.C., Kistler M.K., Kistler W.S. RFX2 is a candidate downstream amplifier of A-MYB regulation in mouse spermatogenesis. BMC Dev Biol 2009, 9:63.
24. Iwama A., Pan J., Zhang P., Reith W., Mach B., Tenen D.G., Sun Z. Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains. Mol Cell Biol 1999, 19:3940-3950.
25. Kapranov P., Cheng J., Dike S., Nix D.A., Duttagupta R., Willingham A.T., Stadler P.F., Hertel J., Hackermuller J., Hofacker I.L., Bell I., Cheung E., Drenkow J., Dumais E., Patel S., Helt G., Ganesh M., Ghosh S., Piccolboni A., Sementchenko V., Tammana H., Gingeras T.R. RNA maps reveal new RNA classes and a possible function for pervasive transcription. Science 2007, 316:1484-1488.
26. Katan Y., Agami R., Shaul Y. The transcriptional activation and repression domains of RFX1, a context-dependent regulator, can mutually neutralize their activities. Nucleic Acids Res 1997, 25:3621-3628.
27. Kawaji H., Kasukawa T., Fukuda S., Katayama S., Kai C., Kawai J., Carninci P., Hayashizaki Y. CAGE Basic/Analysis Databases: the CAGE resource for comprehensive promoter analysis. Nucleic Acids Res 2006, 34:D632-636.
28. Kistler W.S., Horvath G.C., Dasgupta A., Kistler M.K. Differential expression of Rfx1-4 during mouse spermatogenesis. Gene Expr Patterns 2009, 9:515-519.
29. Laurencon A., Dubruille R., Efimenko E., Grenier G., Bissett R., Cortier E., Rolland V., Swoboda P., Durand B. Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species. Genome Biol 2007, 8:R195.
30. Li G., Vega R., Nelms K., Gekakis N., Goodnow C., McNamara P., Wu H., Hong N.A., Glynne R. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007, 3:e8.
31. Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.L., Dollfus H. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 2009, 106:1820-1825.
32. Marshall J.D., Bronson R.T., Collin G.B., Nordstrom A.D., Maffei P., Paisey R.B., Carey C., Macdermott S., Russell-Eggitt I., Shea S.E., Davis J., Beck S., Shatirishvili G., Mihai C.M., Hoeltzenbein M., Pozzan G.B., Hopkinson I., Sicolo N., Naggert J.K., Nishina P.M. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005, 165:675-683.
33. Nielsen S.K., Mollgard K., Clement C.A., Veland I.R., Awan A., Yoder B.K., Novak I., Christensen S.T. Characterization of primary cilia and Hedgehog signaling during development of the human pancreas and in human pancreatic duct cancer cell lines. Dev Dyn 2008, 237:2039-2052.
34. Philipsen S., Suske G. A tale of three fingers: the family of mammalian Sp/XKLF transcription factors. Nucleic Acids Res 1999, 27:2991-3000.
35. Reith W., Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol 2001, 19:331-373.
36. Reith W., Ucla C., Barras E., Gaud A., Durand B., Herrero-Sanchez C., Kobr M., Mach B. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. Mol Cell Biol 1994, 14:1230-1244.
37. Romano S., Milan G., Veronese C., Collin G.B., Marshall J.D., Centobene C., Favaretto F., Dal Pra C., Scarda A., Leandri S., Naggert J.K., Maffei P., Vettor R. Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. Int J Mol Med 2008, 21:731-736.
38. Sanchez-Elsner T., Ramirez J.R., Sanz-Rodriguez F., Varela E., Bernabeu C., Botella L.M. A cross-talk between hypoxia and TGF-beta orchestrates erythropoietin gene regulation through SP1 and Smads. J Mol Biol 2004, 336:9-24.
39. Schreiber E., Matthias P., Muller M.M., Schaffner W. Rapid detection of octamer binding proteins with "mini-extracts," prepared from a small number of cells. Nucleic Acids Res 1989, 17:6419.
40. Shiraki T., Kondo S., Katayama S., Waki K., Kasukawa T., Kawaji H., Kodzius R., Watahiki A., Nakamura M., Arakawa T., Fukuda S., Sasaki D., Podhajska A., Harbers M., Kawai J., Carninci P., Hayashizaki Y. Cap analysis gene expression for high-throughput analysis of transcriptional starting point and identification of promoter usage. Proc Natl Acad Sci U S A 2003, 100:15776-15781.
41. Swoboda P., Adler H.T., Thomas J.H. The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol Cell 2000, 5:411-421.
42. Wierstra I. Sp1: emerging roles-beyond constitutive activation of TATA-less housekeeping genes. Biochem Biophys Res Commun 2008, 372:1-13.
43. Wolfe S.A., Wilkerson D.C., Prado S., Grimes S.R. Regulatory factor X2 (RFX2) binds to the H1t/TE1 promoter element and activates transcription of the testis-specific histone H1t gene. J Cell Biochem 2004, 91:375-383.
44. Yabuta N., Onda H., Watanabe M., Yoshioka N., Nagamori I., Funatsu T., Toji S., Tamai K., Nojima H. Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrest. Nucleic Acids Res 2006, 34:4878-4892.