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Journal of Histochemistry and Cytochemistry, Vol. 46, 281-290, Copyright © 1998, The Histochemical Society, Inc.

ARTICLE

The Gene Defective in Anhidrotic Ectodermal Dysplasia Is Expressed in the Developing Epithelium, Neuroectoderm, Thymus, and Bone

Outi Montonena, Sini Ezera, Ulpu K. Saarialho-Kereb, Riitta Hervac, Marja-Liisa Karjalainen-Lindsbergd, Ilkka Kaitilaa, David Schlessingere, Anand K. Srivastavaf, Irma Thesleffg, and Juha Kerea
a Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
b Department of Dermatology, Helsinki University Central Hospital, Helsinki, Finland
c Department of Pathology, University of Oulu, Finland
d Department of Pathology, Haartman Institute, University of Helsinki, Finland
e Department of Molecular Microbiology, Washington University School of Medicine, St Louis, Missouri
f J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina
g Institute of Biotechnology, University of Helsinki, Finland

Correspondence to: Juha Kere, Dept. of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), 00014 University of Helsinki, Finland.

Anhidrotic ectodermal dysplasia (EDA) is characterized by defects in the development of teeth, hair, and sweat glands. To study the expression of the human gene defective in EDA in human fetal development (Weeks 6–23 of gestational age) and in adult tissues, in situ hybridization and immunohistochemistry were used. First signs of expression were detected at Week 8 in epidermis and in neuroectodermal cells. Starting at Week 12, osteoblasts and thymus were positive for EDA mRNA. Hair follicles expressed EDA mRNA from 18 weeks. The presence of the EDA protein coincided with mRNA expression in the tissues examined. The expression pattern of the EDA gene is consistent with typical involvement of the skin in the syndrome. However, the expression is not limited to the ectodermal tissues and many sites of expression are not obviously reflected in the clinical features of the syndrome. (J Histochem Cytochem 46:281–289, 1998)

Key Words: skin, syndrome, in situ hybridization, immunohistochemistry, mRNA, protein


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