Late Cornified Envelope Protein 1E (LCE1E)

Using real-time PCR with primers that did not differentiate between LCE1D and LCE1E, Jackson et al. (2005) detected moderate LCE1D/E expression in human fetal, arm, penal, and abdominal skin. Much lower expression was detected in vulva, and little to no expression was detected in tongue and esophagus. Using 5-prime RACE and sequence analysis, Jackson et al. (2005) identified a minor LCE1E splice variant containing 2 untranslated upstream exons. Expression of LCE1 genes, including LCE1D/E, was upregulated in cultured normal human keratinocytes by ultraviolet irradiation, but not by calcium. Real-time PCR of skin biopsies from 4 normal individuals revealed an individual who lacked LCE1D/E almost completely. The individual did not have a major skin defect, suggesting the loss of 1 of these genes has only minor consequences.