The mammalian single-minded (sim) gene: Mouse cdna structure and specific expression in diencephalon

Nobuvoshi Shimizu, Akiko Yamaki, Setsuko Noda, Nobuaki Shindoh, Hideto Maeda, Yoshiko Shimizu, Shinsei Minoshima, Jun Kudo

Research output: Contribution to journalArticle

Abstract

To isolate genes potentially involved in the pathogenesis of Down syndrome, we recently performed exon trapping experiments using a series of cosmid clones derived from the DSCR (CBR-D21S55-ERG) and found six exons which have a striking sequence homology with the Drosophila single-minded (sim) gene [Nature Genetics, 10: 9-10 (1995)]. The Drosophila sim gene encodes a transcription factor which regulates the development of central nervous system midline cell lineage, and thus the identification of a human homolog (hSIM) from the DSCR is quite intriguing. We have now isolated SIM cDNA clones from a mouse embryo cDNA library. Mouse SIM protein is highly homologous to human SIM and Drosophila Sim proteins, all contain the basic-helix-loop-helix (bHLH) domain and the PAS domain. In situ hybridization analysis indicated that SIM is expressed in the diencephalon of mouse embryos at the age of 8-9.5 days postcoitum. These results strongly suggest that the newly isolated mammalian SIM homolog functions as a transcriptional regulator which plays a critical role in the development of the central nervous system. The hSIM gene may potentially be involved in the pathogenesis of Down syndrome.

Original languageEnglish
Pages (from-to)71
Number of pages1
JournalJapanese Journal of Human Genetics
Volume41
Issue number1
Publication statusPublished - 1996

Fingerprint

Diencephalon
Down Syndrome
Genes
Drosophila
Exons
Helix-Loop-Helix Motifs
Embryonic Structures
Central Nervous System
Clone Cells
Forensic Anthropology
Cosmids
Cell Lineage
Sequence Homology
Gene Library
In Situ Hybridization
Transcription Factors
Complementary DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Shimizu, N., Yamaki, A., Noda, S., Shindoh, N., Maeda, H., Shimizu, Y., ... Kudo, J. (1996). The mammalian single-minded (sim) gene: Mouse cdna structure and specific expression in diencephalon. Japanese Journal of Human Genetics, 41(1), 71.

The mammalian single-minded (sim) gene : Mouse cdna structure and specific expression in diencephalon. / Shimizu, Nobuvoshi; Yamaki, Akiko; Noda, Setsuko; Shindoh, Nobuaki; Maeda, Hideto; Shimizu, Yoshiko; Minoshima, Shinsei; Kudo, Jun.

In: Japanese Journal of Human Genetics, Vol. 41, No. 1, 1996, p. 71.

Research output: Contribution to journalArticle

Shimizu, N, Yamaki, A, Noda, S, Shindoh, N, Maeda, H, Shimizu, Y, Minoshima, S & Kudo, J 1996, 'The mammalian single-minded (sim) gene: Mouse cdna structure and specific expression in diencephalon', Japanese Journal of Human Genetics, vol. 41, no. 1, pp. 71.
Shimizu, Nobuvoshi ; Yamaki, Akiko ; Noda, Setsuko ; Shindoh, Nobuaki ; Maeda, Hideto ; Shimizu, Yoshiko ; Minoshima, Shinsei ; Kudo, Jun. / The mammalian single-minded (sim) gene : Mouse cdna structure and specific expression in diencephalon. In: Japanese Journal of Human Genetics. 1996 ; Vol. 41, No. 1. pp. 71.
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