Novel Transglutaminase 1 Gene Mutations (R348X/Y365D) in a Japanese Family with Lamellar Ichthyosis Atsushi Kon, MD, PhD, Hitoshi Takeda, Hideyuki Sasaki,

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Novel Transglutaminase 1 Gene Mutations (R348X/Y365D) in a Japanese Family with Lamellar Ichthyosis Atsushi Kon, MD, PhD, Hitoshi Takeda, Hideyuki Sasaki, Kozo Yoneda, Kazuo Nomura, Bijan Ahvazi, Peter M. Steinert, Katsumi Hanada, Isao Hashimoto Journal of Investigative Dermatology Volume 120, Issue 1, Pages 170-172 (January 2003) DOI: 10.1046/j.1523-1747.2003.19522.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Identification and verification of TGM1 mutations in the family with LI. (A) The following primers were used to amplify 378 bp segment of exon 7 sequences: sense primer, 5′-GCTCAGGCGGGTGTCTGGAT-3′; anti-sense primer, 5′-CTGGCTTTCCTCCCTTCTCC-3′. Heteroduplex analysis of DNA corresponding to exon 7 from proband (II-1) revealed two heteroduplex bands (upper and lower arrows), as compared with the DNA of the unrelated healthy control (c). (B) Sequencing of PCR products of II-1 and I-1 revealed a heterozygous C-to-T transition at nucleotide position 1159 (arrows), resulting in a substitution of arginine 348 by stop codon. (C) The R348X mutation created a new restriction enzyme site for DdeI. (D) Sequencing of PCR products of II-1 and I-2 revealed a heterozygous T-to-G transversion at nucleotide position 1209 (arrow), resulting in a substitution of tyrosine 365 by aspartic acid. (E) The maternal mutation Y365D abolished a restriction enzyme site for AluI. Journal of Investigative Dermatology 2003 120, 170-172DOI: (10.1046/j.1523-1747.2003.19522.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Modeling of the Y365D mutation. The Y365 residue is located in the catalytic core domain just above the active site and is buried in a hydrophobic pocket that has been conserved in the family of TGase enzymes. Mutation to a smaller aspartic acid residue will likely allow water molecules to enter the resultant cavity, and favor the formation of an aberrant H-bond with the backbone oxygen of V336. The net result of these two changes would be to distort the orientation of the active site, resulting in loss of enzyme activity. Journal of Investigative Dermatology 2003 120, 170-172DOI: (10.1046/j.1523-1747.2003.19522.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions