Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis Keith A. Choate, Paul A. Khavari

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Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis Keith A. Choate, Paul A. Khavari Journal of Investigative Dermatology Volume 110, Issue 1, Pages 8-12 (January 1998) DOI: 10.1046/j.1523-1747.1998.00070.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical appearance of patients with autosomal recessive ichthyosis, congenital ichthyosiform erythroderma, and lamellar ichthyosis phenotypes. (a) In the congenital ichthyosiform erythroderma phenotype, erythema and fine white scales are noted. (b) The classic lamellar ichthyosis phenotype is characterized by minimal erythema and large, thick brown scales. Journal of Investigative Dermatology 1998 110, 8-12DOI: (10.1046/j.1523-1747.1998.00070.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Abnormal subcellular localization of TGase1 in CIE patient skin. Laser confocal immunofluorescence microscopy was performed with antibodies to human TGase1 on skin tissue obtained from (a) normal skin control and (b) CIE patient skin. (c) Background skin tissue immunofluorescence seen with no primary antibody to TGase1. (d) Histology of CIE patient skin. Note the increase in stratum corneum thickness and absence of parakeratosis. BMZ, basement membrane zone; SC, stratum corneum; SG, stratum granulosum; S, stratum spinosum. Journal of Investigative Dermatology 1998 110, 8-12DOI: (10.1046/j.1523-1747.1998.00070.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Transglutaminase expression and enzymatic activity in CIE patient keratinocytes. (a) Transglutaminase assay was performed on cell extracts prepared from primary CIE patient keratinocytes grown in vitro in the presence of 1.2mM calcium as well as those from normal and LI patients prepared under identical conditions. Transglutaminase activity (cpm per mg × 10−4) is expressed as a percentage of normal control. (b) Western blot analysis was performed using antibodies to human TGase1. Cell extracts from primary CIE and normal (NL) patient keratinocytes prepared above were subjected to denaturing gel electrophoresis on an 8% polyacrylamide gel; ≈20mg of protein was loaded per lane. The blot was simultaneously incubated with antibodies to the constituitively expressed BRG1 protein as an internal control for efficiency of protein transfer. Lanes are juxtaposed from previously separated lanes from the same gel. Journal of Investigative Dermatology 1998 110, 8-12DOI: (10.1046/j.1523-1747.1998.00070.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 The CIE phenotype is maintained in skin regenerated from CIE patient keratinocytes grown in vitro. CIE and normal keratinocytes were grown in vitro from patient skin biopsies and then grafted on immuno-deficient mice. The clinical appearance of human skin regenerated from CIE patient keratinocytes (a, b) as well as normal controls (c, d) is shown at 7 wk postgrafting. (e) Histologic appearance of regenerated CIE and normal patient skin. BMZ, basement membrane zone; SC, stratum corneum. Journal of Investigative Dermatology 1998 110, 8-12DOI: (10.1046/j.1523-1747.1998.00070.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions