Vax1 Homeobox Genes and Mammalian Embryo Development: Difference between revisions
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==Classification, Structure, and function== | ==Classification, Structure, and function== | ||
The Vax1 homeobox gene is a | The Vax1 homeobox gene is a transcription factor that is classified in the Emx/Not genome family, and located specifically on the mouse chromosome 19 and human chromosome 10, in the nucleus of somatic/germline cells. Vax1 is highly specific with the molecular function of DNA Binding and activation of transcription factors such as Vax2 and Emx2, inducing biological processes such as cell differentiation, proliferation, organization, and complete system development.<ref>[http://www.informatics.jax.org/marker/MGI:1277163 VAX1 MGI mouse gene detail - MGI:1277163 - ventral anterior homeobox 1. (n.d.). Retrieved November 7, 2021, from http://www.informatics.jax.org/marker/MGI:1277163. ]</ref> | ||
Revision as of 01:42, 8 November 2021
Introduction
Vax1 is a novel homeobox gene discovered 1998 by a group of researchers in Max Planck Institute for Biophysical Chemistry[1] in the human and mouse genome, crucial to the development of the vertebrate forebrain, olfactory, and visual systems of mammals. Vax1 directly regulates the activation of transcriptional factors such as Emx2, which is a protein coding gene that is crucial in the synthesis of the neural and ciliary structure of the frontal systems of the roof and archipallium of the brain during early development. Through the use of interspecific backcross analysis in mice, crossing a hybrid with one of its parents or an individual genetically similar to its parent, the Vax1 genome was accurately mapped on the distal regions of the mouse chromosomal region, located on mouse chromosome 19. Therefore, Vax1 is directly linked to the homeobox genes, Pax2, Fgf8, MxiL, Emx2, and Aop1, which are located on the same chromosome 19. [2] [3] Because of Pax1's major contribution to the development of the forebrain and optical nerves of developing mammals, individuals that suffer from defects inhibiting the proper function of this homeobox gene, would suffer major phenotypical mutations such as a decrease in the eye/optic nerve size of the organism's, delay in neurological development, and labial malformations such as cleft palate.[4]
Classification, Structure, and function
The Vax1 homeobox gene is a transcription factor that is classified in the Emx/Not genome family, and located specifically on the mouse chromosome 19 and human chromosome 10, in the nucleus of somatic/germline cells. Vax1 is highly specific with the molecular function of DNA Binding and activation of transcription factors such as Vax2 and Emx2, inducing biological processes such as cell differentiation, proliferation, organization, and complete system development.[5]
Mutation
Mutations in the Vax1 homeobox gene in the human chromosome 10, such as successive nucleotide substitutions c.453G>A and c.454C>A, could lead to drastic malformations of the olfactory system of the body, leasing to an array of detrimental phenotypic characteristics. This includes genetic diseases such as anophtalmia and microphthalmia. In the published paper lead by Anne M. Slacorinek 2011, are they able to have the first case study in researching the phenotypic impact Vax1 homeobox genes has on a human organisms, rather then mice. With the use of a case study from an Egyptian male offspring who suffers from a successive nucleotide addition mutation that inhibits the proper function of the Vax1 genome leading to physical impairments such as orofacial clefting, and micropthalmia.[6]
Conclusion
section.
References
- ↑ Hallonet M;Hollemann T;Wehr R;Jenkins NA;Copeland NG;Pieler T;Gruss P; “Vax1 Is a Novel Homeobox-Containing Gene Expressed in the Developing Anterior Ventral Forebrain.” Development (Cambridge, England). U.S. National Library of Medicine. Accessed November 7, 2021. https://pubmed.ncbi.nlm.nih.gov/9636075/.
- ↑ Wikimedia Foundation. (2021, July 2). Backcrossing. Wikipedia. Retrieved November 7, 2021, from https://en.wikipedia.org/wiki/Backcrossing.
- ↑ Hallonet, M., Hollemann, T., Wehr, R., Jenkins, N. A., Copeland, N. G., Pieler, T., & Gruss, P. (1998). Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain. Development, 125(14), 2599–2610. https://doi.org/10.1242/dev.125.14.2599
- ↑ Slavotinek, A. M., Chao, R., Vacik, T., Yahyavi, M., Abouzeid, H., Bardakjian, T., Schneider, A., Shaw, G., Sherr, E. H., Lemke, G., Youssef, M., & Schorderet, D. F. (2011). Vax1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. Human Mutation, 33(2), 364–368. https://doi.org/10.1002/humu.21658
- ↑ VAX1 MGI mouse gene detail - MGI:1277163 - ventral anterior homeobox 1. (n.d.). Retrieved November 7, 2021, from http://www.informatics.jax.org/marker/MGI:1277163.
- ↑ Slavotinek, A. M., Chao, R., Vacik, T., Yahyavi, M., Abouzeid, H., Bardakjian, T., Schneider, A., Shaw, G., Sherr, E. H., Lemke, G., Youssef, M., & Schorderet, D. F. (2011). Vax1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. Human Mutation, 33(2), 364–368. https://doi.org/10.1002/humu.21658
Edited by Logan Gusmano, student of Joan Slonczewski for BIOL 116 Information in Living Systems, 2021, Kenyon College.
