title: Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3.
abstract: As a step toward identifying the pathogenic genes for autoimmune polyglandular disease type I (APECED) and other disorders mapped to the PFKL locus on chromosome 21q22.3, we have constructed a cosmid/BAC (bacterial artificial chromosome) contig of 450 kb covering markers D21S1460-D21S25-PFKL-D21S154 and performed exon trapping. We isolated 22 distinct exons including 6 exons derived from two known genes (PFKL and EHOC-1). Among 16 novel exons, 2 exons matched with human expressed sequence tags (EST) and 7 exons showed homology at predicted amino acid sequence level with proteins from other species. These 16 exons were mapped back to the cosmid contigs, 12 of which were confirmed for their expression by polymerase chain reaction (PCR) screening of human cDNA libraries of various tissues. These exon sequences and a transcript map will aid for isolation of corresponding genes which will be identified as candidate genes involved in the pathogenesis of disorders mapped to the 21q22.3 region.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: K
authors.initials: K
authors.lastname: Nagamine
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: I
authors.initials: I
authors.lastname: Abe
authors.forename: K
authors.initials: K
authors.lastname: Kawasaki
authors.forename: H
authors.initials: H
authors.lastname: Maeda
authors.forename: S
authors.initials: S
authors.lastname: Tsujimoto
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: F
authors.initials: F
authors.lastname: Ito
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D000595:Amino Acid Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping / Q000379:methods*; D002876:Chromosomes, Bacterial; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular / Q000379:methods; D003360:Cosmids; D005091:Exons; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D016324:Sequence Tagged Sites; D014018:Tissue Distribution; D014158:Transcription, Genetic
chemical_list: D005819:Genetic Markers