Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3

Jun Kudoh, Kentaro Nagamine, Shuichi Asakawa, Izumi Abe, Kazuhiko Kawasaki, Hideto Maeda, Susumu Tsujimoto, Shinsei Minoshima, Fumiaki Ito, Nobuyoshi Shimizu

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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.

Original languageEnglish
Pages (from-to)45-52
Number of pages8
JournalDNA Research
Volume4
Issue number1
DOIs
Publication statusPublished - 1997 Jan 1

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Keywords

  • APECED
  • BAC
  • Cosmid
  • Exon trapping

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Kudoh, J., Nagamine, K., Asakawa, S., Abe, I., Kawasaki, K., Maeda, H., Tsujimoto, S., Minoshima, S., Ito, F., & Shimizu, N. (1997). Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3. DNA Research, 4(1), 45-52. https://doi.org/10.1093/dnares/4.1.45