Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions.
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.
Djabali
Karima
K
Departments of Dermatology and Genetics & Development, Columbia University, New York, NY 10032, USA.
Zlotogorski
Abraham
A
Metzker
Arye
A
Ben-Amitai
Dani
D
Christiano
Angela M
AM
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
C490267:HR protein, human; C538855:MED1 protein, human; D056913:Mediator Complex Subunit 1; D011506:Proteins; D011988:Receptors, Thyroid Hormone; D014157:Transcription Factors; D004247:DNA