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Description
Exome sequencing was used to identify novel variants linked to amyotrophic lateral sclerosis (ALS), in a family without mutations in genes previously linked to ALS. A F115C mutation in the gene MATR3 was identified, and further examination of other ALS kindreds identified an additional three mutations in MATR3; S85C, P154S and T622A. Matrin 3 is an RNA/DNA binding protein as well as part of the nuclear matrix. Matrin 3 interacts with TDP-43, a protein that is both mutated in some forms of ALS, and found in pathological inclusions in most ALS patients. Matrin 3 pathology, including mislocalization and rare cytoplasmic inclusions, was identified in spinal cord tissue from a patient carrying a mutation in Matrin 3, as well as sporadic ALS patients. In an effort to determine the mechanism of Matrin 3 linked ALS, the protein interactome of wild-type and ALS-linked MATR3 mutations was examined. Immunoprecipitation followed by mass spectrometry experiments were performed using NSC-34 cells expressing human wild-type or mutant Matrin 3. Gene ontology analysis identified a novel role for Matrin 3 in mRNA transport centered on proteins in the TRanscription and EXport (TREX) complex, known to function in mRNA biogenesis and nuclear export. ALS-linked mutations in Matrin 3 led to its re-distribution within the nucleus, decreased co-localization with endogenous Matrin 3 and increased co-localization with specific TREX components. Expression of disease-causing Matrin 3 mutations led to nuclear mRNA export defects of both global mRNA and more specifically the mRNA of TDP-43 and FUS. Our findings identify ALS-causing mutations in the gene MATR3, as well as a potential pathogenic mechanism attributable to MATR3 mutations and further link cellular transport defects to ALS.
ContributorsBoehringer, Ashley (Author) / Bowser, Robert (Thesis advisor) / Liss, Julie (Committee member) / Jensen, Kendall (Committee member) / Ladha, Shafeeq (Committee member) / Arizona State University (Publisher)
Created2018
ContributorsEvans, Bartlett R. (Conductor) / Schildkret, David (Conductor) / Glenn, Erica (Conductor) / Concert Choir (Performer) / Chamber Singers (Performer) / ASU Library. Music Library (Publisher)
Created2018-03-16
ContributorsOwen, Ken (Conductor) / McDevitt, Mandy L. M. (Performer) / Larson, Brook (Conductor) / Wang, Lin-Yu (Performer) / Jacobs, Todd (Performer) / Morehouse, Daniel (Performer) / Magers, Kristen (Performer) / DeGrow, Gary (Performer) / DeGrow, Richard (Performer) / Women's Chorus (Performer) / Sun Devil Singers (Performer) / ASU Library. Music Library (Publisher)
Created2004-03-24
ContributorsMetz, John (Performer) / Sowers, Richard (Performer) / Collegium Musicum (Performer) / ASU Library. Music Library (Publisher)
Created1983-01-29
ContributorsEvans, Bartlett R. (Conductor) / Glenn, Erica (Conductor) / Steiner, Kieran (Conductor) / Thompson, Jason D. (Conductor) / Arizona Statesmen (Performer) / Women's Chorus (Performer) / Concert Choir (Performer) / Gospel Choir (Conductor) / ASU Library. Music Library (Publisher)
Created2019-03-15
ContributorsKillian, George W. (Performer) / Killian, Joni (Performer) / Vocal Jazz Ensemble (Performer) / ASU Library. Music Library (Publisher)
Created1992-11-05
ContributorsButler, Robb (Conductor) / McCreary, Kimilee (Conductor) / Bakko, Nicki L. (Conductor) / Schreuder, Joel (Conductor) / Larson, Matthew (Performer) / Ortman, Mory (Performer) / Graduate Chorale I (Performer) / Graduate Chorale II (Performer) / ASU Library. Music Library (Publisher)
Created1999-12-02
ContributorsGarrett, Jennifer (Conductor) / FitzPatrick, Carole (Performer) / Aspnes, Lynne (Performer) / Campbell, Andrew (Pianist) (Performer) / Ryan, Russell (Performer) / Rockmaker, Jody (Performer) / Kocour, Mike (Performer) / McLin, Katherine (Performer) / Larson, Brook Carter (Conductor) / Women's Chorus (Performer) / Men's Chorus (Performer) / ASU Library. Music Library (Publisher)
Created2009-05-04
ContributorsLarson, Brook Carter (Conductor) / Gentry, Gregory R. (Conductor) / Garrison, Ryan D. (Conductor) / Schildkret, David (Conductor) / Men's Chorus (Performer) / Symphonic Chorale (Performer) / Women's Chorus (Performer) / Chamber Singers (Performer) / Choral Union (Performer) / ASU Library. Music Library (Publisher)
Created2007-12-03
ContributorsHerberger Singers (Performer) / Sun Devil Singers (Performer) / ASU Library. Music Library (Publisher)
Created2004-10-24