Target mutation

Society for Endocrinology http //www.endocrinology.org (Aims to promote advancement of public education in endocrinology. Contains a number of articles on endocrinology and a list of links to other relevant sites.) tbase—the Transgenic/Targeted Mutation Database at the Jackson Laboratory, Bar Harbor, Maine http //tbase.jax.org/... 

An attempt to organize information on transgenic animals and targeted mutations generated and analyzed worldwide.)... 

Xu F, Palmer AE, Yaver DS, Berka RM, Gambetta GA, Brown SH, Solomon El. 1999. Targeted mutations in a Trametes villosa laccase. J Biol Chem 274 12372-12375. 

Kishida, T., Kostetskii, I., Zhang, Z. et al. 2004. Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolism. J. Biol. Chem., 279( 18) 19276—19285. 

Accili, D., Fishburn, C. S., Drago, J. etal. A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc. Natl Acad. Sci. U.S.A. 93 1945-1949,1996. 

Clive, D. (1989). Mammalian cell genotoxicity A major role for non-DNA targets Mutation Res. 223 327-328. 

Cermakian N, Monaco L, Pando MP, Dierich A, Sassone-Corsi P 2001 Altered behavioral rhythms and clock gene expression in mice with a targeted mutation in the Periodl gene. EMBO J 20 3967-3974... 

To further evaluate the role of CRH in both neuroendocrine and behavioral functions, a mammalian model of CRH deficiency has been generated by targeted mutation in embryonic stem cells (Mugha et al. 1995). CRH-deficient mice reveal a fetal glucocorticoid requirement for lung maturation. Postnatally, they display marked glucocorticoid deficiency and an impaired endocrine response to stress (Jacobson et al. 2000 Mugha et al. 1995). 

Bogdan C (2001) Nitric oxide and the regulation of gene expression. Trends Cell Biol 11 66-75 Bourtchuladze R, Frenguelli B, Blendy J, Cioffi D, Schutz G, SUva AJ (1994) Deficient longterm memory in mice with a targeted mutation of the cAMP-responsive element-binding protein. Cell 79 59-68... 

Alicyclobacillus acidocaldarius SC amino acid sequence (amino acids 376 and 377 of the DDTAV motif) are also essential for enzyme activity [59]. These residues are located in the large central cavity of the dimeric enzyme [55]. Interestingly, targeted mutations that convert the DDTAV motif of SC to DCTAE (the corresponding OSC motif) result in a change in substrate specificity from squalene to 2,3-oxidosqualene [61]. 

Lee G, lingsch C, Lyle PT, et al Lithium treatment strongly inhibits choline transport in human erythrocytes. Br J Chn Pharmacol 1 365-370, 1974 Lee KF, li E, Huber J, et al Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral nervous system. Cell 69 737-749, 1992... 

Rosenkranz, H. S., Mutagenic Nitroarenes, Diesel Emissions, Particulate-Induced Mutations and Cancer An Essay on Cancer-Causation by a Moving Target, Mutat. Res., 367, 65-72 (1996). 

Fig. 2. Outline of the generation of mouse chimeras using ES cells. Germ-line chimeras transmit to their offspring selected, targeted mutations (homologous recombinations, heterozygous, usually recessive).

Mansour, S. L., K. R. Thomas, and M. R. Capecchi, Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells A general strategy for targeting mutations to non-selectable genes. Nature 336 348-352, 1988. 

Wagner, S.D., Milstein, C., Neuberger, M.S. (1995). Codon bias targets mutation. Nature 376, 732. 

Kundu JK, Surh Y-J. 2004. Molecular basis of chemoprevention by resveratrol NF-kappaB and AP-1 as potential targets. Mutat Res 555 65-80. 

Tester, D. J., Spoon, D. B., Valdivia, H. H., Makielski, J. C., and Ackerman, M. J. (2004). Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death a Molecular Autopsy of 51 Medical Examiner/Coroner s Cases. Mayo Clin Proc 79(11) 1380-4. 

Hotamishgil, G S., et al., Uncoupling of obesity from insulin resistance through a targeted mutation in aP2, the adipocyte fatty acid binding protein. Science, 1996, 274, 1377-1379. 

The role of the initial binding RNA in Figure 6.1 is now fulfilled by aminoacyl-synthetases which were selected from a number of proteins of suitable activity. An inordinately large number of this type of structural motif is found in different genes which supports the basic concept of function selection (13) as opposed to the development of function by targeted mutations. 

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