title: Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4.
abstract: The human TCF12 gene, mapping to 15q21, encodes the helix-loop-helix transcription factor 4 (HTF4). A detailed analysis of this genomic region established the organization of the TCF12 gene. The gene includes 21 exons and is significantly larger than an average human gene. Preceding the second exon, two alternative acceptor sites for mRNA splicing yield two distinguishable transcripts (HTF4a and HTF4b) which differ in their 5' untranslated region but share identical coding sequences. Differential utilization of exon 15 in the TCF12 gene may reflect a mechanism producing a cell-type-specific protein (HTF4c). In addition, intron 5 in the TCF12 gene corresponds to the region involved in a translocation, t(9;15)(q22;q21), that results in a form of extraskeletal myxoid chondrosarcoma.
authors.affiliation: Department of Chemistry, Purdue University, Brown Laboratories, West Lafayette, IN 47907, USA.
authors.forename: T-I
authors.initials: TI
authors.lastname: Gan
authors.forename: L
authors.initials: L
authors.lastname: Rowen
authors.forename: R
authors.initials: R
authors.lastname: Nesbitt
authors.forename: B A
authors.initials: BA
authors.lastname: Roe
authors.forename: H
authors.initials: H
authors.lastname: Wu
authors.forename: P
authors.initials: P
authors.lastname: Hu
authors.forename: Z
authors.initials: Z
authors.lastname: Yao
authors.forename: U-J
authors.initials: UJ
authors.lastname: Kim
authors.forename: T
authors.initials: T
authors.lastname: O'Sickey
authors.forename: M
authors.initials: M
authors.lastname: Bina
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D051792:Basic Helix-Loop-Helix Proteins; D001859:Bone Neoplasms / Q000235:genetics; D002813:Chondrosarcoma / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007536:Isomerism; D008969:Molecular Sequence Data; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C073366:TCF12 protein, human