Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

N. Ticozzi, C. Vance, A. L. LeClerc, P. Keagle, J. D. Glass, D. McKenna-Yasek, P. C. Sapp, V. Silani, D. A. Bosco, C. E. Shaw, R. H. Brown, J. E. Landers

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)285-290
Number of pages6
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume156
Issue number3
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Genes
Mutation
RNA-Binding Proteins
DNA-Binding Proteins
Pedigree
Amyotrophic lateral sclerosis 1

Keywords

  • Amyotrophic lateral sclerosis
  • Genetics
  • Motor neurone disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. / Ticozzi, N.; Vance, C.; LeClerc, A. L.; Keagle, P.; Glass, J. D.; McKenna-Yasek, D.; Sapp, P. C.; Silani, V.; Bosco, D. A.; Shaw, C. E.; Brown, R. H.; Landers, J. E.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 156, No. 3, 04.2011, p. 285-290.

Research output: Contribution to journalArticle

Ticozzi, N, Vance, C, LeClerc, AL, Keagle, P, Glass, JD, McKenna-Yasek, D, Sapp, PC, Silani, V, Bosco, DA, Shaw, CE, Brown, RH & Landers, JE 2011, 'Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 156, no. 3, pp. 285-290. https://doi.org/10.1002/ajmg.b.31158
Ticozzi, N. ; Vance, C. ; LeClerc, A. L. ; Keagle, P. ; Glass, J. D. ; McKenna-Yasek, D. ; Sapp, P. C. ; Silani, V. ; Bosco, D. A. ; Shaw, C. E. ; Brown, R. H. ; Landers, J. E. / Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2011 ; Vol. 156, No. 3. pp. 285-290.
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