title: Genomic organization and chromosomal localization of the gene TCF15 encoding the early mesodermal basic helix-loop-helix factor bHLH-EC2.
abstract: bHLH-EC2 is a recently characterized member of a growing family of basic helix-loop-helix transcription factors. This family includes bHLH factors such as twist, which appear to be primarily involved in early mesodermal differentiation, and bHLH factors such as TAL-1, which have been characterized through their association with chromosomal breakpoints associated with T-cell leukemias. To provide for studies aimed at understanding the genetic regulation of bHLH-EC2, we have characterized the organization of this gene and conducted preliminary studies of the transcriptional activity of the upstream promoter region. The mouse bHLH-EC2 gene was found to consist of two exons separated by a 5-kb intron, an organization pattern similar to the mouse twist gene. The transcription initiation site was identified by RNase protection assay and primer extension analysis. Linked promoter-reporter gene transfection experiments in cultured cells indicated that while the identified upstream sequence can function to promote transcription, it does not function in a cell-specific fashion. To investigate the possible association of bHLH-EC2 with hematological malignancy, the chromosomal location of this gene in the human was mapped by fluorescence in situ hybridization and assigned to chromosome band 20p13.
authors.affiliation: Department of Medicine, Vanderbilt University Medical School, Nashville, Tennessee 37232, USA.
authors.forename: H
authors.initials: H
authors.lastname: Hidai
authors.forename: E E
authors.initials: EE
authors.lastname: Quertermous
authors.forename: R
authors.initials: R
authors.lastname: Espinosa
authors.forename: M M
authors.initials: MM
authors.lastname: LeBeau
authors.forename: T
authors.initials: T
authors.lastname: Quertermous
mesh_terms: D000818:Animals; D001483:Base Sequence; D051792:Basic Helix-Loop-Helix Proteins; D001665:Binding Sites; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D018257:Helix-Loop-Helix Motifs / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004247:DNA; D004268:DNA-Binding Proteins; D014157:Transcription Factors; C513109:TCF15 protein, human