期刊
CELLULAR AND MOLECULAR LIFE SCIENCES
卷 61, 期 19-20, 页码 2658-2663出版社
BIRKHAUSER VERLAG AG
DOI: 10.1007/s00018-004-4300-z
关键词
spinal muscular atrophy; survival motor neuron; SMN; tudor domain; Y-G motif
资金
- NINDS NIH HHS [NS41665] Funding Source: Medline
The survival of motor neuron (SMN1) gene product, SMN, is detected both in the cytoplasm and in nuclear gems and cajal bodies. We show here that SMN exon 6 is essential both for formation of its nuclear foci and for its cytoplasmic localization. However, exon 7 inhibits the formation of SMN nuclear foci but promotes SMN cytoplasmic localization. More interestingly, we find that a random C-terminal tag of five or more amino acids downstream of exon 6 is sufficient to inhibit the occurrence of multiple nuclear foci and to promote cytoplasmic localization of SMND7, the primary product of the SMN2 gene. Moreover, SMND7 proteins that bear spinal muscular atrophy mutations in exon 6 either showed defects in nuclear foci formation or enhanced cytoplasmic localization. We conclude that exon 6 and exon 7 synergistically regulate SMN distribution that may require specific exon 6 motifs but is independent of specific sequences in exon 7.
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