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An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene.
A region of human genomic DNA encompassing the 5' end of the thyroglobulin gene has been sequenced and the position of the transcriptional start site has been determined. The 5' non-translated portion of the mRNA displays a quasi-palindromic sequence which could allow this region to adopt a hairpin structure. The first exon of the gene encodes a 19 amino-acids signal peptide and the 3 first amino acids of the mature protein. Apart from the canonical TATA-Box and from a CAAT-Box homology, the promoter region contains a 209 bp-long poly(purine)-poly (pyrimidine) sequence located between positions-512 and -304 relative to the transcription start. When contained in a supercoiled plasmid, this sequence exhibits sensitivity to S1 nuclease at two distinct positions. A precise mapping of the borders of the sensitive regions was achieved by extending primers from both ends of the sequence after digestion by the enzyme. The resulting data can be explained by a model involving the formation of a triple helix structure.
PMID: 2991855 [PubMed - indexed for MEDLINE]
PMCID: PMC321854
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Cited by 23 PubMed Central articles
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Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.
Bacolla A, Collins JR, Gold B, Chuzhanova N, Yi M, Stephens RM, Stefanov S, Olsh A, Jakupciak JP, Dean M, et al.
Nucleic Acids Res. 2006; 34(9):2663-75. Epub 2006 May 19.
[Nucleic Acids Res. 2006]
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Origins of polymorphism at a polypurine hypervariable locus.
Brereton HM, Firgaira FA, Turner DR.
Nucleic Acids Res. 1993 Jun 11; 21(11):2563-9.
[Nucleic Acids Res. 1993]
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Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.
Acebrón A, Aza-Blanc P, Rossi DL, Lamas L, Santisteban P.
J Clin Invest. 1995 Aug; 96(2):781-5.
[J Clin Invest. 1995]
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