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Updated: Nov 22, 2025
Isolation and Culture of Primary Mouse Keratinocytes from Neonatal and Adult Mouse Skin
Published on: July 14, 2017
Knockdown of SDR9C7 Impairs Epidermal Barrier Function
Leila Youssefian1, Fatemeh Niaziorimi2, Amir Hossein Saeidian1
1Jefferson Institute of Molecular Medicine, Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Genetics, Genomics & Cancer Biology Ph.D. Program, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Mutations in SDR9C7 cause autosomal recessive congenital ichthyosis, a skin barrier disorder. This study confirms SDR9C7 deficiency disrupts epidermal function, leading to ichthyosis.
Area of Science:
- Genetics
- Dermatology
- Biochemistry
Background:
- Mendelian disorders of cornification are heterogeneous, with autosomal recessive congenital ichthyosis being common.
- Mutations in SDR9C7 are linked to ichthyosis, presenting with dry, scaly skin and palmoplantar keratoderma.
- SDR9C7 is an oxidoreductase crucial for epidermal lipid barrier formation.
Purpose of the Study:
- To investigate the clinical and molecular basis of autosomal recessive congenital ichthyosis in families with SDR9C7 mutations.
- To elucidate the role of SDR9C7 in epidermal barrier function and ichthyosis pathogenesis.
Main Methods:
- Clinical and molecular characterization of 19 patients from five consanguineous families.
- Downregulation of SDR9C7 expression in keratinocytes using small interfering RNA in 3D skin constructs.
- Ex vivo analysis of skin constructs, including morphological, histological, keratinocyte migration, and dye penetration assays.
Main Results:
- Identified SDR9C7 mutations in five families with autosomal recessive congenital ichthyosis.
- Demonstrated morphological and histological abnormalities in SDR9C7-deficient skin constructs ex vivo.
- Provided evidence for SDR9C7's role in keratinocyte migration and epidermal barrier integrity.
Conclusions:
- SDR9C7 deficiency is sufficient to cause ichthyosis by disrupting epidermal barrier function.
- The study confirms SDR9C7's critical role in maintaining skin barrier homeostasis.
- This research deepens the understanding of ichthyosis genetics and pathomechanisms.
