| The control of gene expression involves both transcriptional and post-transcriptional events that regulate the expression of a gene in both time and place and in response to numerous developmental, hormonal and stress signals. DNA sequences and DNA binding proteins control gene expression. The DNA sequences include cis-acting promoters, such as the TATA box, and enhancer and response elements. The DNA-binding proteins are trans-acting transcription factors that bind with high specificity to these sequences, and facilitate the binding and positioning of RNAPol II for synthesis of pre-mRNA. Other factors that affect the conversion of gene to protein include: access of the gene to the transcriptional apparatus, enzymatic modification of histones and nucleotides, and factors that effect alternative intron splicing, post-transcriptional editing of pre-mRNA, and restricted expression of biallelic genes.
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- How are steroid response elements identified in the genome? Discuss the consequences of a mutation in an SRE versus a mutation in the SRE binding protein.
- What are the biochemical consequences of APOB gene editing in humans? Compare the effects of editing to introduce a substitution, compared to an insertion or deletion, in an mRNA molecule.
- How many transcription factors are present in a cell? How many are present in all the cells in the body? Compare this number to the total number of genes in the human genome and to the total number of translated proteins in the genome. What is the concentration of an individual transcription factor in the cell, compared to the concentration of a glycolytic enzyme?
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Cosma MP. Ordered Recruitment: Gene-Specific Mechanism of Transcription Activation. Molecular Cell 2002;10:227-236.
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| Howe KJ. RNA polymerase II conducts a symphony of pre-mRNA processing activities. Biochim Biophys Acta 2002;1577:308-24.
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| International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
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| Lee TI, Young RA. Transcription of eukaryotic protein-coding genes. Annu Rev Genet 2000;34:77-137.
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| Recillas-Targa F. DNA methylation, chromatin boundaries, and mechanisms of genomic imprinting. Arch Med Res 2002;33:428-38.
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| Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 2001;291:1304-1351.
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| Yudt MR, Cidlowski JA. The glucocorticoid receptor: coding a diversity of proteins and responses through a single gene. Mol Endocrinol 2002;16:1719-1726.
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| Human Genome Research Institute: www.genome.gov
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| Human Genome Resources: www.ncbi.nlm.nih.gov/genome/guide/human/
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| Catalog of Genetic Diseases: www.ncbi.nlm.nih.gov/Omim/
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