Exploring Senataxin -- Sen1p homology

Genetics;Psychology;Biology;Neurobiology

Malone, Elizabeth A.Culbertson, Michael R. (Mentor) ;

University of Wisconsin

关键词: Genetics;    Psychology;    Biology;    Neurobiology;   

Others  :  https://minds.wisconsin.edu/bitstream/handle/1793/46028/2010_Malone.pdf?sequence=1&isAllowed=y

瑞士|英语

来源: University of Wisconsin

【 摘 要 】

Mutated SETX, a human gene encoding for the protein Senataxin, has been identified among patients with two different neurodegenerative disorders--ataxia-ocular apraxia 2 (AOA2) and amyotrophic lateral sclerosis 4 (ALS4). A cross-organism comparison was performed to identify possible orthologs of this newly identified protein. Saccharomyces cerevisiae protein, Sen1p, was determined to have two domains of homology with Senataxin: a matching Superfamily I helicase domain and a portion of the N-terminus to which Rad2p, Rnt1p, and Rpb1p interaction sites have been isolated in yeast. We will explore the degree of conservation between the proteins by determining if Senataxin interacted with the same three protein candidates--Rad2p, Rnt1p, and Rpb1p--as the yeast Sen1p by using a yeast two-hybrid test. Furthermore, we will examine if Senataxin interacts with the human orthologs of these three proteins. With these experiments, wehope to confirm the homologous functions of the two proteins in their respective organisms, which would allow for a greater understanding of SETX mutants, such as people affected by AOA2 and ALS4.