Characterization of msim, a murine homologue of the Drosophila sim transcription factor

Journal Article · Mon Jul 01 00:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0333· OSTI ID:466029

Moffett, P; Reece, M; Pelletier, J ^[1]

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1. McGill Univ., Quebec (Canada); and others

Mutations in the Drosophila single-minded (sim) gene result in loss of precursor cells that give rise to midline cells of the embryonic central nervous system. During the course of an exon-trapping strategy aimed at identifying transcripts that contribute to the etiology and pathophysiology of Down syndrome, we identified a human exon from the Down syndrome, we identified a human exon from the Down syndrome critical region showing significantly homology to the Drosophila sim gene. Using a cross-hybridization approach, we have isolated a murine homolog of Drosophila sim gene, which we designated msim. Nucleotide and predicted amino acid sequence analyses of msim cDNA clones indicate the this gene encodes a member of the basic-helix-loop-helix class of transcription factors. The murine and Drosophila proteins share 88% residues within the basic-helix-loop helix domain, with an overall homology of 92%. In addition, the N-terminal domain of MSIM contains two PAS dimerization motifs also featured in the Drosophila sim gene product, as well as a small number of other transcription factors. Northern blot analysis of adult murine tissues revealed that the msim gene produces a single mRNA species of {approximately}4 kb expressed in a small number of tissues, with the highest levels in the kidneys and lower levels present in skeletal muscle, lung, testis, brain, and heart. In situ hybridization experiments demonstrate that msim is also expressed in early fetal development in the central nervous system and in cartilage primordia. The characteristics of the msim gene are consistent with its putative function as a transcriptional regulator. 51 refs., 6 figs., 1 tab.

• OSTI ID: 466029
• Journal Information: Genomics, Vol. 35, Issue 1; Other Information: PBD: 1 Jul 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
TRANSCRIPTION FACTORS
GENE MUTATIONS
TRANSCRIPTION
DIMERIZATION
GENE REGULATION
TISSUE DISTRIBUTION
STRUCTURE-ACTIVITY RELATIONSHIPS
GENETIC MAPPING
DOWNS SYNDROME
ETIOLOGY
PATHOLOGY
CENTRAL NERVOUS SYSTEM
ONTOGENESIS
CHROMOSOMES
MICE
DROSOPHILA
EXONS
DNA HYBRIDIZATION
NUCLEOTIDES
AMINO ACID SEQUENCE
DNA-CLONING
IN-SITU HYBRIDIZATION
DNA SEQUENCING