The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements Andoni Echaniz-Laguna, Pierre Miniou, Deborah.

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Presentation transcript:

The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements Andoni Echaniz-Laguna, Pierre Miniou, Deborah Bartholdi, Judith Melki The American Journal of Human Genetics Volume 64, Issue 5, Pages 1365-1370 (May 1999) DOI: 10.1086/302372 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Primer extension analysis. PE1 primer was hybridized to 20 μg of total RNA from HeLa cells. A sequencing reaction of a known template was used as molecular size marker. The arrow indicates the specific band corresponding to the extended product. A smaller but weaker band was not consistently found, suggesting that this is a nonspecific product. The American Journal of Human Genetics 1999 64, 1365-1370DOI: (10.1086/302372) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 A, CAT reporter constructs. The arrow indicates the transcription start site identified by primer extension analysis. A promoterless CAT plasmid (PBL) was included to estimate the background activity of the plasmid. B, Comparative activity of SMN (54PBL) and SMNc (121PBL) gene promoters. Relative CAT activities were calculated by comparing the activities of the transfected CAT plasmids (pgCAT/ml) with β-galactosidase activities of the cotransfected PCH110 plasmid (pgCAT/β-gal). Values are presented as mean ± SEM of 20 transfection experiments. C, Comparison of relative CAT activities of successive deletion constructs. Transfection experiments with deleted constructs allowed the identification of the minimal SMN promoter region between PstI and SacII restriction sites (5Ps1). Relative CAT activities are calculated as indicated above and presented as mean ± SEM of six transfection experiments. H = HindIII, S = SacII, P = PstI, D = DraI, and F = FokI. The American Journal of Human Genetics 1999 64, 1365-1370DOI: (10.1086/302372) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 DNA sequence spanning the promoter region of SMN and SMNc. Italic letters indicate the (CA) repeats corresponding to the polymorphic C272 marker. Consensus binding motifs of transcription factors and a putative TATA box are underlined. Small vertical arrows indicate restriction enzyme sites that have been used for generating deleted constructs (GenBank accession number AF092925). The American Journal of Human Genetics 1999 64, 1365-1370DOI: (10.1086/302372) Copyright © 1999 The American Society of Human Genetics Terms and Conditions