title: Expression profile of NSDHL in human peripheral tissues.
abstract: NAD(P) steroid dehydrogenase-like (NSDHL) is an X-linked gene that encodes a 3β-hydroxysteroid dehydrogenase in the cholesterol biosynthetic pathway. Loss-of-function mutations in NSDHL cause Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) and CK syndromes. CHILD syndrome is a male lethal X-linked dominant disorder characterized by asymmetric skin and limb anomalies in affected females. CK syndrome is an intellectual disability disorder characterized by disproportionate short stature, brain malformations, and dysmorphic features in affected males. To understand better the relationship of the expression of mRNA and protein encoded by human NSDHL to the peripheral malformations of these disorders, we characterized the peripheral expression of the mRNA and protein by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR), immunoblotting and immunohistochemistry. We also profiled the mRNA expression of mouse Nsdhl by in situ hybridization. Expression of the mRNA and protein encoded by human NSDHL parallels that of mouse Nsdhl mRNA for most but not all tissues. Furthermore, human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.
authors: Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
authors: Marie
authors: M
authors: Morimoto
authors: Christèle du
authors: Cd
authors: Souich
authors: Joanne
authors: J
authors: Trinh
authors: Keith W
authors: KW
authors: McLarren
authors: Cornelius F
authors: CF
authors: Boerkoel
authors: Glenda
authors: G
authors: Hendson
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics* / Q000378:metabolism*; D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000818:Animals; D002648:Child; D002675:Child, Preschool; D005260:Female; D005333:Fetus; D020869:Gene Expression Profiling; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000378:metabolism; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000378:metabolism; D008297:Male; D051379:Mice; D009928:Organ Specificity; D013577:Syndrome
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human