The human von Willebrand factor gene. Structure of the 5' region.
作者： David BONTHRON , Stuart H. ORKIN
DOI: 10.1111/J.1432-1033.1988.TB13757.X
关键词: Exon 、 Von Willebrand factor 、 Gene 、 Promoter 、 Protein primary structure 、 Von Willebrand factor type A domain 、 Restriction map 、 Biology 、 Molecular biology 、 Gene expression
摘要: Von Willebrand factor (vWF) is a multimeric glycoprotein product of endothelial cells and platelets, that important for normal hemostasis. Recently the complete primary structure vWF precursor was deduced from cloned complementary DNAs (cDNAs). To approach analysis DNA elements mediate tissue-specific expression, we have characterized region human gene surrounding transcriptional initiation site, including first five exons. The putative promoter includes an (A + T)-rich ‘TATA’-like element approximately 30 bp upstream transcription start but no CCAAT or ‘GC’ box (typical motifs other promoters). A (GT)n, repeat uncertain significance located about 650 farther upstream. sequence 5′ flanking suggests presence potentially novel involved in regulation restricted expression vWF.
sci-hub.se 参考文章(34)
C.L. Verweij, P.J. Diergaarde, M. Hart, H. Pannekoek, Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit. The EMBO Journal. ,vol. 5, pp. 1839- 1847 ,(1986) , 10.1002/J.1460-2075.1986.TB04435.X
M. L. Pardue, K. Lowenhaupt, A. Rich, A. Nordheim, (dC-dA)n.(dG-dT)n sequences have evolutionarily conserved chromosomal locations in Drosophila with implications for roles in chromosome structure and function. The EMBO Journal. ,vol. 6, pp. 1781- 1789 ,(1987) , 10.1002/J.1460-2075.1987.TB02431.X
Bernhard HORSTHEMKE, Ulrike BEISIEGEL, Alison DUNNING, Johan R. HAVINGA, Robert WILLIAMSON, Steve HUMPHRIES, Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia. FEBS Journal. ,vol. 164, pp. 77- 81 ,(1987) , 10.1111/J.1432-1033.1987.TB10995.X
M.A. Lehrman, D.W. Russell, J.L. Goldstein, M.S. Brown, Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. Journal of Biological Chemistry. ,vol. 262, pp. 3354- 3361 ,(1987) , 10.1016/S0021-9258(18)61510-8
Steven McKnight, Robert Tjian, Transcriptional selectivity of viral genes in mammalian cells. Cell. ,vol. 46, pp. 795- 805 ,(1986) , 10.1016/0092-8674(86)90061-9
Stephen M. Mount, A catalogue of splice junction sequences Nucleic Acids Research. ,vol. 10, pp. 459- 472 ,(1982) , 10.1093/NAR/10.2.459
Philip J Fay, Yohko Kawai, Denisa D Wagner, David Ginsburg, David Bonthron, Betsy M Ohlsson-Wilhelm, Stephen I Chavin, George N Abraham, Robert I Handin, Stuart H Orkin, Robert R Montgomery, Victor J Marder, Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II. Science. ,vol. 232, pp. 995- 998 ,(1986) , 10.1126/SCIENCE.3486471
Marilyn Kozak, Bifunctional messenger RNAs in eukaryotes Cell. ,vol. 47, pp. 481- 483 ,(1986) , 10.1016/0092-8674(86)90609-4
T Maniatis, S Goodbourn, J. Fischer, Regulation of inducible and tissue-specific gene expression Science. ,vol. 236, pp. 1237- 1245 ,(1987) , 10.1126/SCIENCE.3296191
R Breathnach, P Chambon, Organization and Expression of Eucaryotic Split Genes Coding for Proteins Annual Review of Biochemistry. ,vol. 50, pp. 349- 383 ,(1981) , 10.1146/ANNUREV.BI.50.070181.002025