A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: A candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1

Atsushi Shimizu, Shuichi Asakawa, Takashi Sasaki, Satoru Yamazaki, Hidehisa Yamagata, Jun Kudoh, Shinsei Minoshima, Ikuko Kondo, Nobuyoshi Shimizu

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We identified a novel giant gene encoding a transmembrane protein with CUB and sushi multiple domains on the human chromosome 8q23.3-q24.1 in which benign adult familial myoclonic epilepsy type 1 (BAFME1/FAME, OMIM:601068) has been mapped. This giant gene consists of 73 exons and spans over 1.2Mb on the genomic DNA region. It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at reduced amino acid sequence level and hence we designated as CSMD3. The CSMD3 gene was expressed mainly in adult and fetal brains. We performed mutation analysis on the CSMD3 gene for seven patients with BAFME1/FAME, but no mutation was found in the coding sequence of the CSMD3 gene. Comparative genomic analysis revealed a conserved family of CSMD genes in the mouse and fugu genomes. Possible functions of the CSMD gene family are discussed.

Original languageEnglish
Pages (from-to)143-154
Number of pages12
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - 2003 Sep 12



  • BAFME1
  • Brain
  • CSMD
  • CUB
  • Chromosome 8
  • Comparative genomics
  • Epilepsy
  • FAME
  • Sushi

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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