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 language | English |
|---|---|
| Pages (from-to) | 71 |
| Number of pages | 1 |
| Journal | Japanese Journal of Human Genetics |
| Volume | 41 |
| Issue number | 1 |
| Publication status | Published - 1996 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
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 journal › Article
}
TY - JOUR
T1 - The mammalian single-minded (sim) gene
T2 - Mouse cdna structure and specific expression in diencephalon
AU - Shimizu, Nobuvoshi
AU - Yamaki, Akiko
AU - Noda, Setsuko
AU - Shindoh, Nobuaki
AU - Maeda, Hideto
AU - Shimizu, Yoshiko
AU - Minoshima, Shinsei
AU - Kudo, Jun
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
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M3 - Article
AN - SCOPUS:33748168838
VL - 41
SP - 71
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -