title: Isolation and characterization of a candidate gene for Norrie disease.
abstract: Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.
authors.affiliation: Department of Biochemistry, University of Oxford, UK.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: M A
authors.initials: MA
authors.lastname: Jobling
authors.forename: J F
authors.initials: JF
authors.lastname: Powell
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: K B
authors.initials: KB
authors.lastname: Sims
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D014960:X Chromosome
chemical_list: D004247:DNA