The functional consequences of alternative promoter use in mammalian genomes.
We are beginning to appreciate the increasing complexity of mammalian gene structure. A phenomenon that adds an important dimension to this complexity is the use of alternative gene promoters that drive widespread cell type, tissue type or developmental gene regulation. Recent annotations of the human genome suggest that almost one half of the protein-coding genes contain alternative promoters, including those of many disease-associated genes. Aberrant use of one promoter over another has been found to be associated with various diseases, including cancer. Here we discuss the functional consequences of use and misuse of alternative promoters in normal and disease genomes and review the molecular mechanisms regulating alternative promoter use in mammalian genomes.
Davuluri
Ramana V
RV
Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Virology, Immunology, and Medical Genetics, The Ohio State University, Columbus, OH 43210, USA. ramana.davuluri@osumc.edu
Suzuki
Yutaka
Y
Sugano
Sumio
S
Plass
Christoph
C
Huang
Tim H-M
TH
D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D016678:Genome / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020033:Protein Isoforms / Q000096:biosynthesis; D014158:Transcription, Genetic / Q000235:genetics*
D020121:5' Untranslated Regions; D020033:Protein Isoforms