title: Norrie disease gene: characterization of deletions and possible function.
abstract: Positional cloning experiments have resulted recently in the isolation of a candidate gene for Norrie disease (pseudoglioma; NDP), a severe X-linked neurodevelopmental disorder. Here we report the isolation and analysis of human genomic DNA clones encompassing the NDP gene. The gene spans 28 kb and consists of 3 exons, the first of which is entirely contained within the 5' untranslated region. Detailed analysis of genomic deletions in Norrie patients shows that they are heterogeneous, both in size and in position. By PCR analysis, we found that expression of the NDP gene was not confined to the eye or to the brain. An extensive DNA and protein sequence comparison between the human NDP gene and related genes from the database revealed homology with cysteine-rich protein-binding domains of immediate--early genes implicated in the regulation of cell proliferation. We propose that NDP is a molecule related in function to these genes and may be involved in a pathway that regulates neural cell differentiation and proliferation.
authors.affiliation: Department of Biochemistry, University of Oxford, United Kingdom.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: E M
authors.initials: EM
authors.lastname: Battinelli
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: J F
authors.initials: JF
authors.lastname: Powell
authors.forename: H
authors.initials: H
authors.lastname: Middleton-Price
authors.forename: K B
authors.initials: KB
authors.lastname: Sims
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001284:Atrophy; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities* / Q000196:embryology / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D055515:Cysteine-Rich Protein 61; D003638:Deafness / Q000235:genetics; D005136:Eye Proteins / Q000096:biosynthesis / Q000235:genetics*; D015870:Gene Expression; D005796:Genes; D006133:Growth Substances / Q000235:genetics; D006801:Humans; D017874:Immediate-Early Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D009077:Mucins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D009928:Organ Specificity; D011506:Proteins / Q000235:genetics; D012160:Retina / Q000002:abnormalities* / Q000196:embryology / Q000378:metabolism; D016415:Sequence Alignment; D017385:Sequence Homology; D013552:Swine / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000648:ultrastructure*; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: C501848:CCN1 protein, human; C491850:CCN1 protein, mouse; D055515:Cysteine-Rich Protein 61; D005136:Eye Proteins; D006133:Growth Substances; D017874:Immediate-Early Proteins; D036341:Intercellular Signaling Peptides and Proteins; D009077:Mucins; C081848:NDP protein, human; C489916:Ndph protein, mouse; D009419:Nerve Tissue Proteins; D011506:Proteins; D014841:von Willebrand Factor