The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome

Akiko Yamaki, Setsuko Noda, Jun Kudoh, Nobuaki Shindoh, Hideto Maeda, Shinsei Minoshima, Kazuhiko Kawasaki, Yoshiko Shimisu, Nobuyoshi Shimizu

研究成果: Article

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We have recently isolated a human homolog (hSIM) of the Drosophila single-minded (sim) gene from the Down syndrome critical region of chromosome 21 using the exon trapping method. The Drosophila sim gene encodes a transcription factor that regulates the development of the central nervous system midline cell lineage. To elucidate the structure of the mammalian SIM protein, we have isolated cDNA clones from a mouse embryo cDNA library. The cDNA clones encode a polypeptide of 657 amino acids with a bHLH (basic- helix-loop-helix) domain, characteristic of a large family of transcription factors, and a PAS (Per-Arnt-Sim) domain in the amino-terminal half region. Both of these domains have striking sequence homology with human SIM and Drosophila SIM proteins. In contrast, the carboxy-terminal half of the mouse SIM protein consists of a proline-rich region with no sequence homology to the Drosophila SIM protein. A similar proline-rich domain is known for the activator domain of a number of transcription factors. Whole-mount embryo in situ hybridization experiments revealed that the SIM mRNA is expressed prominently in the diencephalon of mouse embryos at 8-9.5 days postcoitum. The structural characteristics of the mouse SIM protein and its expression in the diencephalon during embryogenesis strongly suggest that the newly isolated mammalian SIM homolog may play a critical role in the development of the mammalian central nervous system. We propose that the human SIM gene may be one of the pathogenic genes of Down syndrome.

元の言語English
ページ(範囲)136-143
ページ数8
ジャーナルGenomics
35
発行部数1
DOI
出版物ステータスPublished - 1996 7 1

ASJC Scopus subject areas

  • Genetics

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    Yamaki, A., Noda, S., Kudoh, J., Shindoh, N., Maeda, H., Minoshima, S., Kawasaki, K., Shimisu, Y., & Shimizu, N. (1996). The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. Genomics, 35(1), 136-143. https://doi.org/10.1006/geno.1996.0332