Como mutación se considera cualquier cambio en la secuencia de nucleótidos del ADN, ya sea una modificación de una base por otra, una deleción, una inserción o inversión de uno a más nucleótidos al interior del cromosoma o una translocación de un fragmento de ADN de un cromosoma a otro (Lodish et al., 2004). Estas modificaciones pueden realizarse en lugares no codificantes del genoma, como los promotores o los intrones, o en regiones codificantes y expresables del genoma como los exones (Griffiths et al., 2002). En este trabajo nos vamos a centrar en aquellas mutaciones que ocurren en los exones de los genes y su repercusión en la expresión fenotípica de los individuos.
Las mutaciones en los exones pueden ser definida como “buenas, malas o indiferentes” dependiendo de su efecto en la expresión proteica del gen (Lodish et al., 2004). Las mutaciones “buenas” o con ganancia de función son aquellas que mejoran la expresión del gen, ofreciéndole al individuo una mayor funcionalidad o una mejor respuesta al medio (Mendoza y Mendoza, 2011) y las mutaciones “malas” o con pérdida de la función son consideradas como patogénicas debido a que la pérdida de la función normal de la proteína genera una enfermedad, y como letales por causar la muerte al individuo que la presenta (Pierce, 2009). Además, las mutaciones indiferentes o silenciosas son modificaciones de la región codificante del gen que no causan la perdida de la función proteica debido a que se traducen en el mismo aminoácido o el aminoácido modificado no altera la estructura ni la funcionalidad de la proteína (Pierce, 2009).
Las consecuencias fenotípicas de las mutaciones nombradas anteriormente pueden variar dependiendo del medio en el que se desenvuelva el individuo, como en el...
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...smo del gen leptina en bovinos en el sistema doble propósito en Chiapas, México. Tesis Doctoral, Colegio de Postgraduados.
Ouali, A.; Herrera-Mendez, C.; Coulis, G.; Becila, S.; Boudjellal, A.; Aubry, L., Sentandreu, M., 2006. Revisiting the conversion of muscle into meat and the underlying mechanisms. Meat Science 74,44-58.
Pierce, B.A. 2009. Las mutaciones génicas y la reparación del ADN. En: Genética: Un enfoque conceptual. Tercera edición, Editorial médica Panamericana, Buenos Aires, Argentina, pp. 471-502.
Royo, L.J. 2004. Secuenciación y análisis del gen de la miostatina bovina. Tesis Doctoral, Universidad Complutense de Madrid.
Sifuentes, A.M., Puentes, H.E., Moreno, V.R:, De laRosa, X.F., Rosales, J., 2007. Frecuencia del alelo Q204X del gen miostatina, en hatos de ganado Charolais de la región noreste de México. Técnica Pecuaria en México 45(1),85-92.
In 1990, the first great stride of genetics took place. This was called the Human Genome Project, a large-scale operation that was designed to understand the human genome (genetic structure). Since its commencement, there have been many leaps and bounds that have taken place. For certain genetic issues that we once knew nothing about, we no...
3 Leicht B. G., McAllister B.F. 2014. Foundations of Biology 1411, 2nd edition. Southlake, TX: Fountainhead Press. Pp 137, 163-168, 177-180,
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
...neration in Planaria." Encyclopedia of Life Sciences (2001): n. pag. National Center for Biotechnology Information. U.S. National Library of Medicine, N.d. Web. 18 Mar. 2014. .
Kozak, B., Strelau, J., & Miles, J. V. (2005). Genetic determinants of individual differences in
Vicuna, Ivan. (1990). “Biografia de Jose Maria Velazco Ibarra.” Quito, Ecuador. Editorial Atlantis Cia. Ltda.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
In Andras Forgacs, “Leather and meat without killing animals” he explains an innovative way to biofabricate leather and meat products. Biofabrication is a process in which cells can be used to create biological materials like organs and tissues.
Sordaria fimicola is a species of microscopic fungus that is an Ascomycete and are used to test for genetic variation in the lab setting (Sordaria fimicola: A Fungus used in Genetics, Volk). These organisms are what are called model organisms, or species that has been widely studied usually because it is easy to maintain and breed in a laboratory setting and has particular experimental advantages (Sordaria fimicola, Volk). S. fimicola, because it is in the Ascomycota phylum, have a distinguishing reproductive structure called the ascus, which is surrounded by the perithecium. This cylindrical sac-like structure houses 8 haploid spores; created through meiosis to produce 4 haploid spores and then mitosis to make 8 (Lab Manual, pg. 59-68). Based on the genotype they will vary in order and color. There are 3 different ratios that can arise from the 8 ascospores: 4:4, 2:2:2:2, and 2:4:2 (black/wild type and tan coloration). The 4:4 ratio suggests that no crossing over had occurred because there is no difference in order of the color parents that were mated. The two other ratios suggest genetic recombination, or crossing over, because of the
The study of the causes of substance abuse has been conflicting many people for a long time. There are two causes of substance abuse that have been argued for many years. The first cause is believed to be environmental. The second cause is a genetic cause that leads people to turn to drugs and alcohol. In “Touch of Grey” Lanthrop comes to the conclusion that his substance abuse issue posses both genetic and environmental causes. This argument is specifically compelling because he uses research and a personal statement to prove his findings. While environmental issues have a large impact on substance abuse, genetics have the greatest impact on substance abuse.
Our article title is “The Origin of the Naked Grains of Maize” which introduces the research performed to explain one aspect of the large variation between maize and Mexican teosinte from which maize was domesticated. The paper goes into how maize has evolved from teosinte and the genetic experimentation performed in order to demonstrate that maize evolved from teosinte. This is an interesting research topic because both of their genotypes are so similar yet their phenotypes are so dramatically different that it resulted in a question of whether maize did in fact evolve directly from teosinte and are members of the same species (Zea Mays) or if it is just a completely different species.
Creatine is a nitrogenous compound that is found naturally in meats and is synthesized by the body and stored in th...
Colgan, Wes III, Ramsey, Linda, White, James D., and Spaulding, Jim. Explorations in Biology. 6th ed. Boston: Pearson, 2010. 33-36. Print.
M Dufrasne, I. M. (2013). Journal of Animal Science. Animal Genetics , Volume 91 (12).
middle of paper ... ... World Book Inc, 2000. Davis, Lloyd S. and John T Darby. Penguin Biology. San Diego: Academic Press, Inc., 1990.