Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations

Y Kino, C Washizu, E Aquilanti, M Okuno… - Nucleic acids …, 2011 - academic.oup.com
Y Kino, C Washizu, E Aquilanti, M Okuno, M Kurosawa, M Yamada, H Doi, N Nukina
Nucleic acids research, 2011academic.oup.com
TLS (translocated in liposarcoma), also known as FUS (fused in sarcoma), is an RNA/DNA-
binding protein that plays regulatory roles in transcription, pre-mRNA splicing and mRNA
transport. Mutations in TLS are responsible for familial amyotrophic lateral sclerosis (ALS)
type 6. Furthermore, TLS-containing intracellular inclusions are found in polyglutamine
diseases, sporadic ALS, non-SOD1 familial ALS and a subset of frontotemporal lobar
degeneration, indicating a pathological significance of TLS in a wide variety of …
Abstract
TLS (translocated in liposarcoma), also known as FUS (fused in sarcoma), is an RNA/DNA-binding protein that plays regulatory roles in transcription, pre-mRNA splicing and mRNA transport. Mutations in TLS are responsible for familial amyotrophic lateral sclerosis (ALS) type 6. Furthermore, TLS-containing intracellular inclusions are found in polyglutamine diseases, sporadic ALS, non-SOD1 familial ALS and a subset of frontotemporal lobar degeneration, indicating a pathological significance of TLS in a wide variety of neurodegenerative diseases. Here, we identified TLS domains that determine intracellular localization of the murine TLS. Among them, PY-NLS located in the C-terminus is a strong determinant of intracellular localization as well as splicing regulation of an E1A-derived minigene. Disruption of PY-NLS promoted the formation of cytoplasmic granules that were partially overlapped with stress granules and P-bodies. Some of the ALS-linked mutations altered both intracellular localization and splicing regulation of TLS, while most mutations alone did not affect splicing regulation. However, phospho-mimetic substitution of Ser505 (or Ser513 in human) could enhance the effects of ALS mutations, highlighting interplay between post-translational modification and ALS-linked mutations. These results demonstrate that ALS-linked mutations can variably cause loss of nuclear functions of TLS depending on the degree of impairment in nuclear localization.
Oxford University Press