Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homolog

Gene

Volumn 320, Issue 1-2, 2003, Pages 145-154

  Ali, Mahmood ^a   Girimaji, Satish C ^b   Kumar, Arun ^a  

^a INDIAN INSTITUTE OF SCIENCE   (India)

^b NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

5 UTR; CpG island; Promoter; RACE; uORF

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; LUCIFERASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; ARTICLE; CARCINOGENESIS; CELL STRAIN HEPG2; CONTROLLED STUDY; CPG ISLAND; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE STRUCTURE; GENETIC TRANSCRIPTION; HELA CELL; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE HOMOLOGY; TATA BOX; TRANSCRIPTION INITIATION SITE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

EID: 0242266908     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(03)00821-7     Document Type: Article

References (28)

1. Campbell S.E., Sood A., Argyle D.J., Nasir L., Argyle S.A., Bennet D. The cloning and functional analysis of canine matrix metalloproteinase-13 gene promoter. Gene. 286:2002;233-240.
2. Carbonara C., Longa L., Grosso E., Borrone C., Garre M.G., Brisigotti M., Migone M. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum. Mol. Genet. 3:1994;1829-1832.
3. Carninci P., Westover A., Nishiyama Y., Ohsumi T., Itoh M., Nagaoka S., Sasaki N., Okazaki Y., Muramatsu M., Schneider C., Hayashizaki Y. High efficiency selection of full-length cDNA by improved biotinylated cap trapper. DNA Res. 4:1997;61-66.
4. Cowell J.K., Cragg H. Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma. Eur. J. Cancer. 32A:1996;1749-1752.
5. Cheadle J.P., Reeve M.P., Sampson J.R., Kwiatkowski D.J. Molecular genetic advances in tuberous sclerosis. Hum. Genet. 107:2000;97-114.
6. Cheadle J.P., Dobbie L., Idziaszczyk S., Hodges A.K., Smith A.J. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mamm. Genome. 11:2000;1135-1138.
7. European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of tuberous sclerosis gene on chromosome 16. Cell. 75:1993;1305-1315.
8. Fryer A.E., Chalmers A., Connor J.M., Povey S., Yates A.D., Yates J.R.W., Osborne J.P. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. i:1987;659-661.
9. Geballe A., Sachs M. Translational control by upstream open reading frames. Sonenberg N., Hershey J., Matthews M. Translational Control of Gene Expression. 2000;595-614 Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
10. Green A.J., Johnson P.H., Yates J.R.W. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum. Mol. Genet. 3:1994;1833-1834.
11. Huang D., Jokela M., Tuusa J., Skog S., Poikonen K., Syvaoja J.E. E2F mediates induction of the Sp1-controlled promoter of the human DNA polymerase epsilon B-subunit gene POLE2. Nucleic Acids Res. 29:2000;2810-2821.
12. Jones P.A. DNA methylation errors and cancer. Cancer Res. 56:1996;2463-2467.
13. Kandt R.S. Linkage of an important gene for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat. Genet. 2:1992;37-41.
14. Kuzmin I., Duh F.-M., Latif F., Geil L., Zbar B., Lerman M. Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene. 10:1995;2185-2194.
15. Lamb R.F., Roy C., Diefenbach T.J., Vinters H.V., Johnson M.W., Jay D.J., Hall A. The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat. Cell Biol. 2:2000;281-287.
16. Larsen F., Gundersen G., Lopez R., Prydz H. CpG islands as gene markers in the human genome. Genomics. 13:1992;1095-1107.
17. Li N., Seetharam B. A 69-base pair fragment derived from human transcobalamin II promoter is sufficient for high bidirectional activity in the absence of a TATA box and an initiator element in transfected cells. Role of an E box in transcriptional activity. J. Biol. Chem. 273:1998;28170-28177.
18. McDonagh K.T., Nienhuis A.W. Nathan D.G., Oski F.A. Hematology of Infancy and Childhood. 1993;783-879 Saunders, Philadelphia.
19. Ohtan-Fujita N., Dryja T.P., Rapaport J.M. Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet. Cytogenet. 98:1997;43-49.
20. Pesole G., Liuni S. Internet resources for the functional analysis of 5′ and 3′ untranslated regions of eukaryotic mRNA. TIG. 15:1999;378.
21. Quandt K., Frech K., Karas H., Wingeneder E., Werner T. MatInd and MatInspector - new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23:1995;4878-4884.
22. Rice P., Longden I., Bleasby A. EMBOSS: the European Molecular Biology Open Software Suite. Trends Genet. 16:2000;276-277.
23. Sargsyan E., Barysheva M., Backlunda M., Sharipob A., Mkrtchian S. Genomic organization and promoter characterization of the gene coding a putative endoplasmic reticulum chaperone, ERp29. Gene. 285:2002;127-139.
24. Sonenberg N. mRNA translation: influence of the 5′ and 3′ untranslated regions. Curr. Opin. Genet. Dev. 4:1994;310-315.
25. Song F., Goodman R.M. Cloning and identification of the promoter of the tobacco Sar8.2b gene, a gene involved in systemic acquired resistance. Gene. 290:2002;115-124.
26. Stamm S., Zhu J., Nakai K., Stoilov P., Stoss O., Zhang M.Q. An alternative-exon database and its statistical analysis. DNA Cell Biol. 19(12):2000;739-756.
27. van Slegtenhorst M.et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 77:1997;805-808.
28. Van Slegrenhorst M., Nellist M., Nagelkerkan B., Cheadle J., Snell R., Ouweland van den A., Reuser A., Sampson J., Halley D., Sluijs P. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet. 7:1998;1053-1057.