title: Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.
abstract: FUS, EWS, and TAF15 belong to the TET family of structurally similar DNA/RNA-binding proteins. Mutations in the FUS gene have recently been discovered as a cause of familial amyotrophic lateral sclerosis (FALS). Given the structural and functional similarities between the three genes, we screened TAF15 and EWS in 263 and 94 index FALS cases, respectively. No coding variants were found in EWS, while we identified six novel changes in TAF15. Of these, two 24 bp deletions and a R388H missense variant were also found in healthy controls. A D386N substitution was shown not to segregate with the disease in the affected pedigree. A single A31T and two R395Q changes were identified in FALS cases but not in over 1,100 controls. Interestingly, one of the R395Q FALS cases also harbors a TARDBP mutation (G384R). Altogether, these results suggest that additional studies are needed to determine whether mutations in the TAF15 gene represent a cause of FALS.
authors: Department of Neurology, University of Massachusetts Medical School, Worcester, 01605, USA.
authors: N
authors: N
authors: Ticozzi
authors: C
authors: C
authors: Vance
authors: A L
authors: AL
authors: Leclerc
authors: P
authors: P
authors: Keagle
authors: J D
authors: JD
authors: Glass
authors: D
authors: D
authors: McKenna-Yasek
authors: P C
authors: PC
authors: Sapp
authors: V
authors: V
authors: Silani
authors: D A
authors: DA
authors: Bosco
authors: C E
authors: CE
authors: Shaw
authors: R H
authors: RH
authors: Brown
authors: J E
authors: JE
authors: Landers
mesh_terms: D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D034702:RNA-Binding Protein FUS / Q000737:chemistry*; D017386:Sequence Homology, Amino Acid; D035381:TATA-Binding Protein Associated Factors / Q000737:chemistry / Q000235:genetics
chemical_list: D034702:RNA-Binding Protein FUS; C102041:TAF15 protein, human; D035381:TATA-Binding Protein Associated Factors