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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

Fig. 2

Keratinocytes from affected plantar hyperkeratotic skin of RSPO1-mutated patient display invasiveness properties. A Primary keratinocytes from affected plantar (ANp) and unaffected abdominal (ANa) skin of RSPO1-mutated XX-sex reversed patient AN, and from plantar (Cp) and abdominal (Ca) skin of aged-matched unrelated donor were serially cultivated. The cumulative number of cell generations per passage was plotted against the total time in culture. B Representative images of H&E of 3D organotypic skin models generated by seeding primary keratinocytes ANp or Cp on a matrix incorporating dermal fibroblasts from patient plantar skin (HF-ANp) or from control (HF-Cp) exposed at the air‒liquid interface to promote full epidermal differentiation and stratification. Models with ANp keratinocytes and fibroblasts were also treated with recombinant Rspo1 protein (ANp + RSPO). Relative Invasion Index values is reported (n = 10). C, D Immunoblots of β-catenin, E-cadherin, vimentin, 14–3-3 sigma and involucrin (IVL) in ANp or Cp keratinocytes co-cultured with irradiated PPK ANp-HFs, Cp-HFs and standard feeder-layer of 3T3-J2 cells. Densitometric values were normalized to GAPDH levels and expressed as fold change. E RT-PCR assay on ANp and Cp samples of selected differentially expressed genes. Densitometric values were normalized to Beta2 microglobulin levels and expressed as ratio ANp/Cp

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172