Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia

Genomics

Volumn 38, Issue 2, 1996, Pages 141-148

  Groenen, Peter M A ^a   Garcia, Emilio ^b   Debeer, Philippe ^a   Devriendt, Koen ^a   Fryns, Jean Pierre ^a   Van De Ven, Wim J M ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; TRANSCRIPTION FACTOR;

ARTICLE; CASE REPORT; CHROMOSOMAL LOCALIZATION; CHROMOSOME 19; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 6; CLINICAL PROTOCOL; CONTROLLED STUDY; COSMID; DNA SEQUENCE; FEMALE; FETUS; GENE DISRUPTION; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; HYDRONEPHROSIS; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; LUNG FIBROBLAST; PRIORITY JOURNAL; PROMOTER REGION; URETEROPELVIC JUNCTION OBSTRUCTION;

EID: 0030447827     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0609     Document Type: Article

References (37)

1. Altschul, S. F., Gish, W., Miller, W., Myers, E. W., and Lipman, D. J. (1990). Basic local alignment search tool. J. Mol. Biol. 215: 403-410.
2. Ashworth, L. K., Batzer, M. A., Brandriff, B., Branscomb, E., De Jong, P., Garcia, E., Garnes, J. A., Gordon, L. A., Lamerdin, J. E., Lennon, G., Mohrenweiser, H., Olsen, A. S., Slezak, T., and Carrano, A. V. (1995). An integrated map of human chromosome 19. Nature Genet. 11: 422-427.
3. Atwell, J. D. (1985). Familial pelviureteric junction hydronephrosis and its association with a duplex pelvicaliceal system and vesicoureteral reflux. A family study. Br. J. Urol. 57: 365-369.
4. Atwell, J. D., and Allen, N. H. (1980). The interrelationship between paraureteric diverticula, vesicoureteral reflux and duplication of the pelvicaliceal collecting system: A family study. Br. J. Urol. 52: 269-273.
5. Bungert, J., Kober, I., During, F., and Seifart, K. H. (1992). Transcription factor eUSF is an essential component of isolated transcription complexes on the duck histone H5 gene and it mediates the interaction of TFIID with a TATA-deficient promoter. J. Mol. Biol. 223: 885-898.
6. Carthew, R. W., Chodosh., L. A., and Sharp, P.A. (1985). An RNA-polymerase II transcription factor binds to an upstream element in the adenovirus major late promoter. Cell 43: 439-448.
7. Chodosh, L. A., Carthew, R. W., Morgan, J. G., Crabtree, G. R., and Sharp, P. A. (1987a). The adenovirus major late transcription factor binds to and activates the mouse methallothionein promoter. Genes Dev. 1: 973-980.
8. Chodosh, L. A., Carthew, R. W., Morgan, J. G., Crabtree, G. R., and Sharp, P. A. (1987b). The adenovirus major late transcription factor activates the rat K-fibrogen promoter. Science 238: 684-688.
9. Devriendt, K., and Fryns, J. P. (1995). Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. Am. J. Med. Genet. 59: 396-397.
10. Fryns, J. P., Kleczkowska, A., Moerman, P., and Vandenberghe, K. (1993). Hereditary hydronephrosis and the short arm of chromosome 6. Hum. Genet. 91: 514-518.
11. Garcia, E., Elliot, J., Gorvad, A., Brandriff, B., Gordon, L., Soliman, K. M., Ashworth, L. K., Lennon, G., Burgin, M., Lamerdin, J., and Carrano, T. (1995). A continuous high-resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of human chromosome 19. Genomics 27: 52-66.
12. Groenen, P. M. A., Garcia, E., Thoelen, R., Aly, M., Schoenmakers, E. F. P. M., Devriendt, K., Fryns, J.-P., and Van de Ven, W. J. M. (1996). Isolation of cosmids corresponding to the chromosome breakpoints of a de novo, autosomal t(6;19)(p21;q13.1) translocation of a patient with multicystic renal dysplasia. Cytogenet. Cell Genet., in press.
13. Hall, R. K., and Taylor, W. L. (1989). Transcription factor IIIA gene expression in Xenopus oocytes utilizes a transcription factor similar to major late transcription factor. Mol. Cell. Biol. 9:5003-5011.
14. Henrion, A. A., Martinez, A., Mattei, M-G., Kahn, A., and Raymondjean, M. (1995) Structure, sequence, and chromosomal location of the gene for USF2 transcription factors in mouse. Genomics 25: 36-43.
15. Izquierdo, L., Porteous, M., Paramo, P. G., and Connor, J. M. (1992). Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. Hum. Genet. 89: 557-560.
16. Lai, C., Brow, M. A., Nave, K. A., Noronha, A. B., Quarles, R. H., Bloom, F. E., Milner, R. J. and Sutcliff, J. G. (1987). Two forms of 1B236/myelin-associated glycoprotein, a cell adhesion molecule for postnatal neural development, are produced by alternative splicing. Proc. Natl. Acad. Sci. USA 84: 4337-4341.
17. Lin, Q. Luo, X., and Sawadogo, M. (1994). Archaic structure of the gene encoding transcription factor USF. J. Biol. Chem. 269(39): 23894-23903.
18. Lyon, M. F., and Kirby, M. C. (1994). Mouse chromosome atlas. Mouse Genome 92: 19-41.
19. Mackintosh, M., Almarhoos, G., and Heath, D. A. (1989). HLA linkage with familial vesicoureteral reflux and familial pelviureteric junction obstruction. Tissue Antigens 34: 185-189.
20. Männikkö, M., Kestilä, M., Holmberg, C., Norio, R., Ryynänen, M., Olsen, A., Peltonen, L., and Tryggvason, K. (1995). Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am. J. Hum. Genet. 57: 1377-1383.
21. Martin-Gallardo, A., Lamerdin, J., and Carrano, A. V. (1994). Shotgun sequencing. In "Automated DNA Sequencing and Analysis" (M. D. Adams, C. Fields, and J. Craig Venter, Eds.), Academic Press, San Diego.
22. Miyamoto, N. G., Moncollin, V., Egly, J. M., and Chambon, P. (1985). Specific interaction between a transcription factor and the upstream element of the adenovirus-2 major late promoter. EMBO J. 4: 3563-3570.
23. Moerman, P., Fryns, J. P., Sastrowijoto, S. H., Vandenberghe, K., and Lauwerijns, J. M. (1994). Hereditary renal adysplasia: New observations and hypotheses. Ped. Pathol. 14: 405-410.
24. Murre, C., McCaw, P. S., and Baltimore, D. (1989). A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins. Cell 56: 777-783.
25. Nakano, R., Fujita, N., Sato, S., Inuzuka, T., Sakimura, K., Ishiguro, H., Mishina, M., and Miyataka, T. (1991). Structure of mouse myelin-associated glycoprotein gene. Biochem. Biophys. Res. Commun. 178: 282-290.
26. Peritz, L. N., Fodor, E. J., Silversides, D. W., Cattini, P. A., Baxter, J. D., and Eberhardt, N. L. (1988). The human growth hormone gene contains both positive and negative control elements. J. Biol. Chem. 263: 5005-5007.
27. Read, M. L., Clark, A. R., and Docherty, K. (1993). The helix-loop-helix transcription factor USF (upstream stimulatory factor) binds to a regulatory sequence of the human insulin gene enhancer. Biochem. J. 295: 233-237.
28. Robson, W. L. M., Rogers, R. C., and Leung, A. K. C. (1994). Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction - A common pathogenesis? Am. J. Med. Genet. 53: 30.
29. Robson, W. L. M., Rogers, R. C., and Leung, A. K. C. (1995). MCDK, UPJO, and VUR: A common genetic cause. Am. J. Med. Genet. 59: 398.
30. Roodthooft, A. M., Birnholz, J. C., and Holmes, L. B. (1984). Familial nature of congenital absence and severe dysgenesis of both kidneys. N. Engl. J. Med. 310: 1341-1345.
31. Sanger, F., Nicklen, S., and Coulson, A. (1977). DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA 74: 5463-5467.
32. Sawadogo, M., and Roeder, R. G. (1985). Interaction of a gene-specific transcription factor with the adenovirus major late promoter upstream of the TATA-box region. Cell 43: 165-175.
33. Schoenmakers, E. F. P. M., Wanschura, S., Mols, R., Bullerdiek, J., Van den Berghe, H., and Van de Ven, W. J. M. (1995). Recurrent rearrangements in the high mobility group protein gene, HMGIC, in benign mesenchymal tumours. Nature Genet. 10: 436-444.
34. Sengar, D. P. S., Rashid, A., and Wolfish, N. M. (1979). Familial urinary tract anomalies. J. Urol. 121: 194-197.
35. Sirito, M., Walker, S., Lin, Q., Kozlowski, M. T., Klein, W. H., and Sawadago, M. (1992). Members of the USF family of helix-loop-helix proteins bind DNA as homo-as well as heterodimers. Gene Exp. 2(3): 231-240.
36. Thomas, D. F. M. (1990). Fetal uropathy. Br. J. Urol. 66: 225-231.
37. Viollet, B., Lefrancois-Martinez, A. M., Henrion, A., Kahn, A., Raymondjean, M., and Martinez, A. (1996). Immunocytochemical characterization and transacting properties of upstream stimulatory factor isoforms. J. Biol. Chem. 271: 1405-1415.