Main Article Content
By Krishyra Mitchell, Neuroscience
Advisor: Ronald Waclaw
Presentation ID: 182
Abstract: Genes regulating distinct pathways are of particular interest in relation to their function in organ systems of the human body. In the last several years, an increase of data from the human genetics field has identified mutations in key genes, which may result in their gain or loss of function, resulting in various diseases, syndromes, or cancers. This review provides an overview for following 3 nuclear factors genes: NFE2L2, Erf/ETS2 repressor factor, and the ETS transcription factor ELK-1. NFE2L2 is a transcription factor that regulates the response to chemical and radiation induced oxidative stress in cells. The ERF/ETS2 repressor factor is an ETS family member gene that's been suggested to act as a negative regulator by competing with other ETS-family members for DNA binding. ELK-1 is a transcription factor and member of the ETS oncogene family of transcription factors that includes nuclear phosphoproteins. These genes are involved in many biological processes that contribute to them being prominent factors in many central nervous system diseases, disorders and human cancers. ERF and ELK1 are effectors of the MAPK pathway and NFE2L2 is a stress response transcription factor. These genes play a variety of roles in the cell, but ERK and ELK are directly associated with the MAPK pathway. The MAPK pathway is the key pathway that increased in RASopathy syndromes. These nuclear factors may be involved in response to elevated MAPK signaling through RASopathy mutations, which could affect distinct cellular phenotypes. An increased understanding of how these genes work is crucial to revealing their roles in certain diseases or cancers.