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

• Published in: The journal of histochemistry and cytochemistry 1998-03, Vol.46 (3), p.281-289
• Main Authors: Montonen, Outi, Ezer, Sini, Saarialho-Kere, Ulpu K, Herva, Riitta, Karjalainen-Lindsberg, Marja-Liisa, Kaitila, Ilkka, Schlessinger, David, Srivastava, Anand K, Thesleff, Irma, Kere, Juha
• Format: Article
• Language: English
• Subjects: Adult; Bone and Bones - cytology; Bone and Bones - embryology; Bone and Bones - metabolism; Central Nervous System - embryology; Central Nervous System - metabolism; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia - metabolism; Hair Follicle - embryology; Hair Follicle - metabolism; Humans; Immunohistochemistry; In Situ Hybridization; Respiratory System - metabolism; RNA, Messenger - analysis; Skin - embryology; Skin - metabolism; Thymus Gland - embryology; Thymus Gland - metabolism; Time Factors; Tissue Distribution
• ISSN: 0022-1554; 1551-5044
• DOI: 10.1177/002215549804600301

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.