title: Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions.
abstract: Atrichia with papular lesions (APL) (MIM 209 500) is a rare autosomal recessive disease characterized by early onset of atrichia, followed by a papular eruption within the first years of life. Recent studies demonstrating linkage to chromosome 8p21 and further mutation detection in the hairless gene (HR) have established the molecular basis of APL. This study describes the case of a 16-year-old female with APL due to a missense mutation, D1012N, in the hr-thyroid hormone receptor interacting domain 2 (TRID2) of the HR. Using functional and biochemical analysis, it was determined that this mutation does not significantly affect hr-thyroid hormone receptor interaction. This result suggests that the TRID2 domain either is dispensable in the hr-TR interaction or is not involved in the pathogenesis of APL.
authors.affiliation: Departments of Dermatology and Genetics & Development, Columbia University, New York, NY 10032, USA.
authors.forename: Karima
authors.initials: K
authors.lastname: Djabali
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: Arye
authors.initials: A
authors.lastname: Metzker
authors.forename: Dani
authors.initials: D
authors.lastname: Ben-Amitai
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000293:Adolescent; D000505:Alopecia / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D056913:Mediator Complex Subunit 1; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D011506:Proteins / Q000235:genetics* / Q000502:physiology*; D011988:Receptors, Thyroid Hormone / Q000502:physiology*; D012873:Skin Diseases, Genetic / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: C490267:HR protein, human; C538855:MED1 protein, human; D056913:Mediator Complex Subunit 1; D011506:Proteins; D011988:Receptors, Thyroid Hormone; D014157:Transcription Factors; D004247:DNA