title: Isolation of a candidate gene for Norrie disease by positional cloning.
abstract: The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein.
authors.affiliation: Department of Human Genetics, University of Nijmegen, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Berger
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: T J
authors.initials: TJ
authors.lastname: van de Pol
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: C
authors.initials: C
authors.lastname: Döerner
authors.forename: A
authors.initials: A
authors.lastname: Monaco
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: R
authors.initials: R
authors.lastname: Lebo
authors.forename: M
authors.initials: M
authors.lastname: Warburg
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003360:Cosmids; D004247:DNA / Q000235:genetics; D003638:Deafness / Q000235:genetics; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D008969:Molecular Sequence Data; D008995:Monoamine Oxidase / Q000235:genetics; D017384:Sequence Deletion; D014960:X Chromosome
chemical_list: D004247:DNA; D008995:Monoamine Oxidase