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. 2019 Feb 4;2(1):e201800284. doi: 10.26508/lsa.201800284

Figure 2. Immunolocalization of mutant LOR and its C-terminal amino acid sequence.

Figure 2.

(A–C) In healthy control epidermis, KRT10 and wild-type LOR were expressed by suprabasal keratinocytes and more-differentiated keratinocytes, respectively. No mutant LOR was detected. (D–H) Immunolocalization of KRT10 and wild-type LOR revealed thicker stratum spinosum and granulosum in the affected epidermis than in the control. Mutant LOR accumulated in the nuclei of keratinocytes in the upper epidermis. Higher magnification of the square in (F) is shown in (G). Merged image of anti-KRT10 and anti-mutant LOR was also shown (H). (I–K) Immunolocalization of KRT10, wild-type LOR and mutant LOR was normalized in the revertant epidermis. Scale bars, 100 μm. (L) The C-terminal amino acid sequences of the wild-type and mutant LOR. We identified two frameshift mutations in LOR, namely, c.545_546insG (p.Gly183ArgfsTer153) and c.664_665insC (p.Gln222ProfsTer116) in family 1 and family 2, respectively. These mutations replace the C-terminus of LOR with novel arginine-rich peptides (shown in a different colour). The numerical values indicate the amino acid number of wild-type LOR from the C-terminus.