title: Localization of the Norrie disease gene mRNA by in situ hybridization.
abstract: Norrie disease is a rare X-linked recessive neurodevelopmental disorder. The affected males manifest congenital blindness, which is often associated with hearing loss, mental retardation and psychiatric problems. Genetic linkage studies have localized the gene to the short arm of the X-chromosome and the gene has been isolated recently. The encoded protein is a member of the superfamily of growth factors containing a cystine knot motif and may be involved in cell adhesion and neurodevelopment. Molecular genetic analysis revealed a large number of missense, nonsense, deletion, and splice-site mutations among Norrie patients. In order to further determine the role of the Norrie disease gene, we studied the distribution pattern of its mRNA in the retina and in brain by in situ hybridization. The results show abundant hybridization signals in outer nuclear, inner nuclear, and ganglion cell layers of the retina in all three species (mice, rabbit, and human) examined. There was no significant expression in the vitreous body, lens, and rod outer segment. High expression levels were also observed in the cerebellar granular layer, hippocampus, olfactory bulb, cortex, and epithelium of the rabbit brain. These data suggest that the Norrie disease gene could play a critical role in the differentiation or maintenance of the differentiated state of the retina.
authors.affiliation: Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
authors.forename: M K
authors.initials: MK
authors.lastname: Hartzer
authors.forename: M
authors.initials: M
authors.lastname: Cheng
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.forename: B S
authors.initials: BS
authors.lastname: Shastry
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism*; D011817:Rabbits; D012160:Retina / Q000378:metabolism; D014018:Tissue Distribution / Q000502:physiology
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; C489916:Ndph protein, mouse; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger