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Author Moffett, P. ♦ Reece, M. ♦ Pelletier, J.
Source United States Department of Energy Office of Scientific and Technical Information
Content type Text
Language English
Subject Keyword 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
Abstract 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.
ISSN 08887543
Educational Use Research
Learning Resource Type Article
Publisher Date 1996-07-01
Publisher Place United States
Journal Genomics
Volume Number 35
Issue Number 1


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