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

Yamaki, Akiko; Kudoh, Jun; Shindoh, Nobuaki

doi:10.1006/geno.1996.0332

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

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Abstract

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 provator 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 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 ofmore »« less

Authors:

Yamaki, Akiko ^[1]; Kudoh, Jun; Shindoh, Nobuaki ^[2]

Keio Univ. School of Medicine, Tokyo (Japan)
Keio Univ. School of Medicine, Tokyo (Japan); and others

Publication Date:: Mon Jul 01 00:00:00 EDT 1996

OSTI Identifier:: 466028

Resource Type:: Journal Article

Journal Name:: Genomics

Additional Journal Information:: Journal Volume: 35; Journal Issue: 1; Other Information: PBD: 1 Jul 1996

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; DOWNS SYNDROME; PATHOGENESIS; MAN; HEREDITARY DISEASES; MENTAL DISORDERS; CHROMOSOMES; GENETIC MAPPING; HUMAN CHROMOSOME 21; CHROMOSOMAL ABERRATIONS; TRANSCRIPTION FACTORS; STRUCTURE-ACTIVITY RELATIONSHIPS; GENE REGULATION; DNA-CLONING; DNA SEQUENCING; CENTRAL NERVOUS SYSTEM; ONTOGENESIS; MICE; DROSOPHILA; AMINO ACID SEQUENCE; IN-SITU HYBRIDIZATION; BIOLOGICAL MARKERS; SCANNING ELECTRON MICROSCOPY

Citation Formats


                    Yamaki, Akiko, Kyorin Univ., Tokyo, Kudoh, Jun, and Shindoh, Nobuaki. The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome.  United States: N. p., 1996. 
        Web.  doi:10.1006/geno.1996.0332.

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                    Yamaki, Akiko, Kyorin Univ., Tokyo, Kudoh, Jun, & Shindoh, Nobuaki. The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome.  United States.  https://doi.org/10.1006/geno.1996.0332

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                    Yamaki, Akiko, Kyorin Univ., Tokyo, Kudoh, Jun, and Shindoh, Nobuaki. 1996.  
        "The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome".  United States.  https://doi.org/10.1006/geno.1996.0332.

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@article{osti_466028,

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

  author       = {Yamaki, Akiko and Kyorin Univ., Tokyo and Kudoh, Jun and Shindoh, Nobuaki},

  abstractNote = {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 provator 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 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. 36 refs., 6 figs.},

  doi          = {10.1006/geno.1996.0332},

  url          = {https://www.osti.gov/biblio/466028},
  journal      = {Genomics},
number       = 1,

  volume       = 35,

  place        = {United States},

  year         = {Mon Jul 01 00:00:00 EDT 1996},

  month        = {Mon Jul 01 00:00:00 EDT 1996}

}

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