期刊
CYTOGENETIC AND GENOME RESEARCH
卷 98, 期 4, 页码 245-248出版社
KARGER
DOI: 10.1159/000071042
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资金
- NHGRI NIH HHS [HG 02152, 5P50 HG 01791-03] Funding Source: Medline
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [P50HG001791, U54HG002152] Funding Source: NIH RePORTER
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. Copyright (C) 2002 S. Karger AG, Basel.
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