Abstract
AbstractGemins 2–8 and Unr‐interacting protein (UNRIP) are intimate partners of the survival motor neuron (SMN) protein, which is the determining factor for the neuromuscular disorder spinal muscular atrophy (SMA). The most documented role of SMN, Gemins and UNRIP occurs within the large macromolecular SMN complex and involves the cytoplasmic assembly of spliceosomal uridine‐rich small nuclear ribonucleoproteins (UsnRNPs), a housekeeping process critical in all cells. Several reports detailing alternative functions for SMN in either motor neurons or skeletal muscles may, however, hold the answer to the extreme neuromuscular tissue specificity observed in SMA. Recent discoveries indicate that collaboration between SMN and Gemins also extends to these non‐canonical functions, hence raising the possibility that mutations in Gemin genes may be the cause of unlinked neuromuscular hereditary syndromes. This review evaluates the functions of Gemins and UNRIP inside the SMN complex and discusses whether these less notorious SMN complex members are capable of acting independently of SMN.
References
120
Referenced
93
10.1016/j.nmd.2008.10.004
10.1007/400_2009_4
10.1038/nrn2670
10.1002/j.1460-2075.1996.tb00725.x
10.1073/pnas.96.20.11167
10.1038/ng0598-63
10.1093/hmg/9.19.2869
10.1016/S0092-8674(00)80367-0
10.1083/jcb.147.6.1181
10.1083/jcb.148.6.1177
10.1074/jbc.M109448200
10.1074/jbc.M110141200
10.1074/jbc.M203478200
10.1074/jbc.M512243200
10.1074/jbc.M607505200
10.1016/j.febslet.2005.03.034
10.1093/hmg/9.7.1093
10.1093/hmg/ddi343
10.1016/S0092-8674(00)80368-2
10.1038/nrm2124
10.1038/nrm1259
10.1074/jbc.M608528200
10.1074/jbc.M809031200
10.1074/jbc.M609297200
10.1074/jbc.M702317200
10.1186/1471-2121-8-28
10.1093/hmg/ddn320
10.1371/journal.pgen.1000265
10.1093/hmg/ddg157
10.1073/pnas.94.18.9920
10.1210/en.2007-1237
10.1073/pnas.152318699
10.1242/dev.00920
10.1093/hmg/9.5.663
10.1093/hmg/9.5.675
10.1091/mbc.E08-01-0024
10.1073/pnas.0802287105
10.1074/jbc.M003299200
10.1038/ncb1101-945
10.1128/MCB.19.10.6554
10.1093/emboj/cdf585
10.1093/hmg/8.13.2351
10.1073/pnas.0508947102
10.1093/hmg/ddi168
10.1016/j.ceb.2009.02.004
10.1016/j.cell.2008.09.020
10.1101/sqb.2006.71.001
10.1016/j.molcel.2006.05.036
10.1038/nsmb.1584
10.1016/j.str.2005.03.014
10.1016/j.molcel.2010.03.014
10.1128/MCB.23.1.414-423.2003
10.1101/cshperspect.a000653
10.1083/jcb.200104083
10.1371/journal.pone.0006171
10.1091/mbc.e08-05-0525
10.1016/j.yexcr.2003.08.022
10.1007/s00412-004-0285-5
10.1083/jcb.147.4.715
10.1083/jcb.200311121
10.1006/excr.2000.4858
10.1006/excr.2001.5186
10.1016/S1534-5807(02)00222-8
10.1101/gad.908401
10.1083/jcb.200207028
10.1093/hmg/ddm192
10.1128/MCB.25.7.2744-2756.2005
10.1083/jcb.200704163
10.1091/mbc.E06-03-0247
10.1093/nar/gkl374
10.1083/jcb.200511038
10.1073/pnas.0704977104
10.1016/j.yexcr.2010.05.001
10.1038/nrm2080
10.1016/j.ydbio.2009.05.553
10.1091/mbc.E09-09-0777
10.1016/j.devcel.2009.10.017
10.1038/nsmb.1783
10.1128/MCB.25.13.5543-5551.2005
10.1093/hmg/ddi390
10.1016/j.cell.2008.03.031
10.1371/journal.pgen.1000773
10.1093/hmg/9.1.47
10.1046/j.1460-9568.1999.00428.x
10.1093/hmg/10.5.497
10.1093/hmg/11.14.1605
10.1523/JNEUROSCI.23-16-06627.2003
10.1523/JNEUROSCI.3967-05.2006
10.1016/j.bbrc.2010.02.158
10.1016/j.bbrc.2010.05.139
10.1371/journal.pone.0003209
10.1093/hmg/11.1.93
10.1016/j.yexcr.2005.05.014
10.1083/jcb.200304128
10.1093/hmg/ddq073
10.1083/jcb.200703187
10.1101/gad.342005
10.1523/JNEUROSCI.1637-06.2006
10.1083/jcb.200610053
10.1093/hmg/ddn234
10.1093/hmg/ddm379
10.1101/gad.974702
10.1261/rna.5181104
10.1096/fj.06-6155com
10.1093/nar/gkn979
10.1101/gad.13.4.437
10.1021/pr900884g
10.1021/pr9006987
10.1093/nar/gkq271
10.1371/journal.pone.0007825
10.1038/sj.embor.7401088
10.1007/s12192-010-0169-y
10.1074/jbc.274.27.19136
10.1210/mend.15.1.0580
/ Mol Endocrinol / The DEAD box protein DP103 is a regulator of steroidogenic factor‐1 by Ou Q (2001)10.1074/jbc.M309308200
10.1016/S0092-8674(02)00714-6
10.1016/j.bbrc.2005.08.184
10.1093/nar/29.17.3595
10.1371/journal.pone.0007030
10.1021/pr0504539
Dates
Type | When |
---|---|
Created | 14 years, 10 months ago (Oct. 15, 2010, 2:56 a.m.) |
Deposited | 1 year, 10 months ago (Oct. 16, 2023, 7:55 p.m.) |
Indexed | 1 day, 7 hours ago (Aug. 21, 2025, 12:57 p.m.) |
Issued | 14 years, 10 months ago (Oct. 15, 2010) |
Published | 14 years, 10 months ago (Oct. 15, 2010) |
Published Online | 14 years, 10 months ago (Oct. 15, 2010) |
Published Print | 14 years, 8 months ago (Dec. 1, 2010) |
@article{Cauchi_2010, title={SMN and Gemins: ‘We are family’ … or are we?: Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN}, volume={32}, ISSN={1521-1878}, url={http://dx.doi.org/10.1002/bies.201000088}, DOI={10.1002/bies.201000088}, number={12}, journal={BioEssays}, publisher={Wiley}, author={Cauchi, Ruben J.}, year={2010}, month=oct, pages={1077–1089} }