Bart A. Jessen, Marjorie A. Phillips, Robert H. Rice

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Role of Sp1 Response Element in Transcription of the Human Transglutaminase 1 Gene Bart A. Jessen, Marjorie A. Phillips, Robert H. Rice Journal of Investigative Dermatology Volume 115, Issue 1, Pages 113-117 (July 2000) DOI: 10.1046/j.1523-1747.2000.00027.x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Transient transfections of TGM1 deletion constructs. Transcriptional activities are shown in rB cultures (a) and SIK cultures (b) for the indicated promoter regions (2.2–0.5, 2.2–1.0, and 2.2–1.5 in order of decreasing size) joined to the basal promoter (bp -70/+70) in PGL3 basic. All but the intact promoter (2.2), included for comparison, lacked the Sp1 site at -86. Illustrated are the mean ± SD of three or more independent trials. Journal of Investigative Dermatology 2000 115, 113-117DOI: (10.1046/j.1523-1747.2000.00027.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Binding of keratinocyte nuclear proteins to Sp1 sequences. Illustrated are the wild-type (W1) and mutant (M1, M2, M3) central sequences of the oligomers employed (a). For W1, the Sp1 core sequence is underlined and an overlapping AP2 site is overlined. The mutant Sp1 sequence M2 (indicated by ·) is that found in the TGM1 promoter in patient LIA4. Parts (b)–(d) show the electrophoretic mobility shift patterns obtained with these oligonucleotides. Assays were performed using SIK nuclear extract and 32P-labeled W1 oligomer (b, d) or W2 (c), a shorter probe missing the 3′ C of the core AP2 site, at saturating levels, alone (–) or with a 50-fold excess of the unlabeled competitor as indicated above the lanes. Competitor (Comp) Sp1 is a commercial consensus site and the AP2 competitor is a consensus site from the involucrin promoter. Antibodies (Ab) were included (AP2 or Sp1) or not (–), also indicated above each lane. The arrow to the right of each panel shows the Sp1 complex that was disrupted by inclusion of anti-Sp1 antibody, and the asterisk indicates the position of a supershifted AP2 complex. Journal of Investigative Dermatology 2000 115, 113-117DOI: (10.1046/j.1523-1747.2000.00027.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Effect of Sp1 mutations on TGM1 promoter activity. Site-directed mutations in the promoter (2.2 kb) corresponding to those in the oligonucleotides M1, M2, and M3 as indicated were evaluated by transient transfection of SIK cultures in parallel with the native construct (normalized to 100%). The promoter (2.2 kb) from the transglutaminase gene of patient LIA4, prepared by PCR, was assayed in hEp and SIK cultures, which responded the same (the combined result is labeled hEp), in parallel with the native construct (100%). A proximal 0.2 kb promoter construct with mutation corresponding to oligonucleotide M3 was assayed in SIK and rB cultures in parallel with the native 0.2 kb construct (100%). Illustrated are the mean ± SD of three or more independent trials. Journal of Investigative Dermatology 2000 115, 113-117DOI: (10.1046/j.1523-1747.2000.00027.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Identification of TGM1 mutation. Illustrated are the readouts from automated sequencing of reverse transcription–PCR products prepared using RNA from patient LIA4 (b) and of cloned cDNA from an unaffected individual (a). The first base (C) of Q661 is mutated to T in the patient DNA, yielding a stop codon in the mRNA (Q661 X). Journal of Investigative Dermatology 2000 115, 113-117DOI: (10.1046/j.1523-1747.2000.00027.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Confirmation of the mutation site by restriction digestion. A region of exon 13 from a control (C), the LI patients' father (F), mother (M), and unaffected sibling (S), and from the LIA4 (A4) patient was amplified from genomic DNA by PCR. The products were digested with AvaII restriction endonuclease and analyzed by 2% agarose gel electrophoresis. Arrows indicate the major restriction fragments, where the restriction fragment resulting from the mutation is denoted by an asterisk. Numbers at the left edge refer to lengths in base pairs of the size markers (lane L). Journal of Investigative Dermatology 2000 115, 113-117DOI: (10.1046/j.1523-1747.2000.00027.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions