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Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism  Ulvi Talas, John Dunlop, Sahera Khalaf,

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Presentation on theme: "Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism  Ulvi Talas, John Dunlop, Sahera Khalaf,"— Presentation transcript:

1 Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism  Ulvi Talas, John Dunlop, Sahera Khalaf, Irene M. Leigh, David P. Kelsell  Journal of Investigative Dermatology  Volume 114, Issue 1, Pages (January 2000) DOI: /j x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Immunostaining of normal human sole skin for pancreatic elastase like proteins. (a) Nonstained control section (secondary AB only). (b) Stained with anti-porcine pancreatic elastase rabbit monoclonal antibody. At antibody dilution 1:5000 a clear continuous staining of the basal cell layer of epidermis is observed. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Reverse transcription–PCR of the known human pancreatic elastases I, II, and III from total RNA preparations. Primers were designed to amplify two different overlapping fragments of each elastase. K, keratinocytes; P, pancreas. PCR conditions: 45 cycles of 95°C 30 s, 61°C 60 s, 72°C 120 s. Lanes 1 and 3, 639 bp N-terminal PCR of ELA1; lanes 2 and 4, 370 bp C-terminal PCR of ELA1; lanes 5 and 7, 421 bp PCR of ELS2; lanes 6 and 8, 520 bp PCR of ELS2; lanes 9 and 11, 430 bp PCR of EL3; lanes 10 and 11, 615 bp PCR of EL3. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Human elastase I cDNA as sequenced from primary keratinocytes and amino acid translation of the coding region. Underlined nucleotides denote differences between our sequence and the one proposed byKawashima et al. (1992; see text). The amino acids of the catalytic triad (His-63, Asp-111, and Ser-206) are printed in bold with a double underline. Bold script with a single underline highlights Val-227 and Thr-239 residues present at the mouth of the substrate binding pocket, which contribute to the substrate specificity of elastase I. The amino acids printed in bold italic are involved in the primary contact of the enzyme/inhibitor complex with elafin. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Sequencing traces of the polymorphic locus in exon 7 of ELA1. Wild-type (top), heterozygous (middle), homozygous individuals (bottom) for the variant. Insertion of an extra C is revealed as an extra G on the reverse strand (3′→5′), as shown with an arrow. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

6 Figure 5 Sequence comparisons of Elastase 1. (A) Comparison of the earlier GenBank submissions of human elastase 1 exon sequence with our keratinocyte mRNA and blood DNA sequencing data (black bold print). → denotes the translational start point, > <  show mRNA splice sites. The polymorphic site in exon 7 with an extra C insertion in the allele 2 is highlighted by an arrow (↓). Translation of the allele2 leads to the truncated ELA1 protein shown as ELA1_var in (B). Allele 1 corresponds to ELA1_hum in the (B) of the figure. (B) Multiple alignment of the porcine pancreatic elastase (EL1_PIG) and human elastase 1 (ELA1_hum) proteins with its truncated variant (ELA1_var). The amino acids of the catalytic triad (His-63, Asp-111, and Ser-206) are shown in bold. The amino acids printed in bold italic with double underline are involved in the primary contact of the enzyme/inhibitor complex with elafin. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

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