title: Distinguishing ichthyoses by protein profiling.
abstract: To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency). The ichthyosis protein expression patterns were readily distinguishable from each other and from phenotypically normal epidermis. In general, the degree of departure from normal was lower from ichthyosis vulgaris than from lamellar ichthyosis, parallel to the severity of the phenotype. Analysis of samples from families with ichthyosis vulgaris and concomitant modifying gene mutations (STS deficiency, GJB2 deficiency) permitted correlation of alterations in protein profile with more complex genetic constellations.
authors.affiliation: Department of Environmental Toxicology and Forensic Science Graduate Program, University of California Davis, Davis, California, United States of America.
authors.forename: Robert H
authors.initials: RH
authors.lastname: Rice
authors.forename: Katie M
authors.initials: KM
authors.lastname: Bradshaw
authors.forename: Blythe P
authors.initials: BP
authors.lastname: Durbin-Johnson
authors.forename: David M
authors.initials: DM
authors.lastname: Rocke
authors.forename: Richard A
authors.initials: RA
authors.lastname: Eigenheer
authors.forename: Brett S
authors.initials: BS
authors.lastname: Phinney
authors.forename: Matthias
authors.initials: M
authors.lastname: Schmuth
authors.forename: Robert
authors.initials: R
authors.lastname: Gruber
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics / Q000378:metabolism; D005260:Female; D000091344:Filaggrin Proteins; D020869:Gene Expression Profiling / Q000379:methods*; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D016112:Ichthyosis Vulgaris / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D043266:Steryl-Sulfatase / Q000235:genetics / Q000378:metabolism; D011503:Transglutaminases / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
chemical_list: D017630:Connexins; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D011503:Transglutaminases; C105804:transglutaminase 1; D043266:Steryl-Sulfatase