Transcriptional Regulation: Evolution

Changes in transcriptional regulation can result from mutations in cis (within regulatory sequences) or trans (in the structure or expression of transcription factors). Modifications in transcription can have a profound impact on gene function and constitute an important class of evolutionary change within genomes.

Keywords: cis-regulatory sequence; enhancer; polymorphism; promoter; transcription factor

 References
    Aparicio S, Morrison A, Gould A et al. (1995) Detecting conserved regulatory elements with the model genome of the Japanese pufferfish, Fugu rubipes. Proceedings of the National Academy of Sciences of the USA 92: 1684–1688.
    Averof M and Patel NH (1997) Crustacean appendage evolution associated with changes in Hox gene expression. Nature 388: 682–686.
    Bamshad MJ, Mummidi S, Gonzles E et al. (2002) A strong signature of balancing selection in the 5¢ cis-regulatory region of CCR5. Proceedings of the National Academy of Sciences of the USA 99: 10539–10544.
    Buckwold VE, Xu ZC, Yen TSB and Ou JH (1997) Effects of a frequent double-nucleotide basal core promoter mutation and its putative single-nucleotide precursor mutations on hepatitis B virus gene expression and replication. Journal of General Virology 78: 2055–2065.
    Burke AC, Nelson CE, Morgan BA and Tabin C (1995) Hox genes and the evolution of vertebrate axial morphology. Development 121: 333–346.
    book Carroll SB, Grenier JK and Weatherbee SD (2001) From DNA to Diversity: Molecular Genetics and the Evolution of Animal Design. Malden: Blackwell Science.
    book Cooper DN (1999) Human Gene Evolution. Oxford, UK: BIOS Scientific Publishers.
    book Davidson EH (2001) Genomic Regulatory Systems: Development and Evolution. San Diego, CA: Academic Press.
    Dermitzakis ET and Clark AG (2002) Evolution of transcription factor binding sites in mammalian gene regulatory regions: conservation and turnover. Molecular Biology and Evolution 19: 1114–1121.
    Hamblin MT and Di Rienzo A (2000) Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. American Journal of Human Genetics 66: 1669–1679.
    Kopp A, Duncan I, Godt D and Carroll SB (2001) Genetic control and evolution of sexually dimorphic characters. Nature 408: 553–559.
    Lowe CJ and Wray GA (1997) Radical alterations in the roles of homeobox genes during echinoderm evolution. Nature 389: 718–721.
    Ludwig M and Kreitman M (1995) Evolutionary dynamics of the enhancer region of even-skipped in Drosophila. Molecular Biology and Evolution 12: 1002–1011.
    book Raff RA and Kauffman TC (1983) Embryos, Genes, and Evolution. Bloomington, IN: Indiana University Press.
    Rinder H, Thomschke A, Rusch-Gerdes S et al. (1998) Significance of ahpC promoter mutations for the prediction of isoniazid resistance in Mycobacterium tuberculosis. European Journal of Clinical Microbiology and Infectious Diseases 17: 508–511.
    Rockman MV and Wray GA (2002) Abundant raw material for cis-regulatory evolution in humans. Molecular Biology and Evolution 19: 1991–2004.
    Segal JA, Lynn Barnett J and Crawford DL (1999) Functional analysis of natural variation in Sp1 binding sites of a TATA-less promoter. Journal of Molecular Evolution 49: 736–749.
    Shabalina SA, Ogurtsov AY, Kondrashov VA and Kondrashov AS (2001) Selective constraint in intergenic regions of human and mouse genomes. Trends in Genetics 17: 373–376.
    Shaw PJ, Wratten NS, McGregor AP and Dover GA (2002) Coevolution in bicoid-dependent promoters and the inception of regulatory incompatibilities among species of higher Diptera. Evolution and Development 4: 265–277.
    Tournamille C, Colin Y, Cartron JP and Le Van Kim C (1995) Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genetics 10: 224–228.
    Tümpel S, Maconochie M, Wiedeman LM and Krumlauf R (2002) Conservation and diversity in the cis-regulatory networks that integrate information controlling expression of Hoxa2 in hindbrain and cranial neural crest cells in vertebrates. Developmental Biology 246: 45–56.
    Wang RL, Stec A, Hey J, Lukens L and Doebley J (1999) The limits of selection during maize domestication. Nature 398: 236–239.
    book White RJ (2001) Gene Transcription: Mechanisms and Control. Oxford, UK: Blackwell Science.
    book Wilkins AS (2002) The Evolution of Developmental Pathways. Sunderland, MA: Sinauer Associates.
    Wray GA, Hahn MW, Abouheif E et al. (2003) The evolution of transcriptional regulation in eukaryotes. Molecular Biology and Evolution 20: 1377–1419.
 Further Reading
    Adams MD (2005) Conserved sequences and the evolution of gene regulatory signals. Current Opinion in Genetics & Development 15: 628–633.
    Caminci P, Sandelin A, Lenhard B et al. (2006) Genome-wide analysis of mammalian promoter architecture and evolution. Nature Geneties 38: 626–635.
    ENCODE Project Consortium (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799–816.
    Sun H, Skogerbo G and Chen R (2006) Conserved distances between vertebrate highly conserved elements. Human Molecular Genetics 15: 2911–2922.
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Wray, Gregory A(Dec 2007) Transcriptional Regulation: Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006142.pub2]