title: The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
authors.forename: O
authors.initials: O
authors.lastname: Montonen
authors.forename: S
authors.initials: S
authors.lastname: Ezer
authors.forename: U K
authors.initials: UK
authors.lastname: Saarialho-Kere
authors.forename: R
authors.initials: R
authors.lastname: Herva
authors.forename: M L
authors.initials: ML
authors.lastname: Karjalainen-Lindsberg
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: A K
authors.initials: AK
authors.lastname: Srivastava
authors.forename: I
authors.initials: I
authors.lastname: Thesleff
authors.forename: J
authors.initials: J
authors.lastname: Kere
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000166:cytology / Q000196:embryology / Q000378:metabolism*; D002490:Central Nervous System / Q000196:embryology / Q000378:metabolism*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000378:metabolism; D018859:Hair Follicle / Q000196:embryology / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D012333:RNA, Messenger / Q000032:analysis; D012137:Respiratory System / Q000378:metabolism; D012867:Skin / Q000196:embryology / Q000378:metabolism*; D013950:Thymus Gland / Q000196:embryology / Q000378:metabolism*; D013997:Time Factors; D014018:Tissue Distribution
chemical_list: D012333:RNA, Messenger