Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

Campbell, Louise J.

doi:10.1093/hmg/9.7.1093

Cited by 78 publications

(40 citation statements)

References 39 publications

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“…The putative role of SMN in transcription regulation has been previously discussed. 56,57 Discussion for the genes not brought up here can be found in Supplementary 1.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

et al. 2013

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Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we performed the first genome-wide methylation profiling of SMA patients and healthy individuals to study the association of DNA methylation status with the severity of the SMA phenotype. We identified strong significant differences in methylation level between SMA patients and healthy controls in CpG sites close to the genes CHML, ARHGAP22, CYTSB, CDK2AP1 and SLC23A2. Interestingly, the CHML and ARHGAP22 genes are associated with the activity of Rab and Rho GTPases, which are important regulators of vesicle formation, actin dynamics, axonogenesis, processes that could be critical for SMA development. We suggest that epigenetic modifications may influence the severity of SMA and that these novel genetic positions could prove to be valuable biomarkers for the understanding of SMA pathogenesis.

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“…The putative role of SMN in transcription regulation has been previously discussed. 56,57 Discussion for the genes not brought up here can be found in Supplementary 1.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

et al. 2013

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“…In support of this conclusion, the overexpression of SMNΔN27 mutant leads to the inhibition of transcription in vivo, whereas wild-type SMN leads to stimulation of transcription (Pellizzoni et al 2001b). In addition, Gemin3 has also been shown to be involved in the regulation of transcription of certain reporter genes by RNA polymerase II (Campbell et al 2000;Yan et al 2003). However, the mechanism by which SMN and its interacting partners act in these processes remains unknown.…”

Section: A Role For the Smn Complex In The Biogenesis Of Other Rnpsmentioning

confidence: 99%

The SMN Complex: An Assembly Machine for RNPs

Battle¹,

Kasim²,

Yong³

et al. 2006

Cold Spring Harbor Symposia on Quantitative Biology

166

156

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“…Gemin3 and Gemin4 have recently been identified in a number of studies analysing the SMN protein complex (Campbell et al, 2000;Charroux et al, 2000;Charroux et al, 1999). On the basis of amino-acid sequence alignments, Gemin3 is thought to be a member of the DEAD box family of putative ATP-dependent RNA helicases and is also termed DEAD-box protein103 kDa (DP103).…”

Section: Identification Of Proteins Interacting With Ppp4c and Ppp4r2mentioning

confidence: 99%

Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs

Carnegie

Sleeman

Morrice

et al. 2003

Journal of Cell Science

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Protein phosphatase 4 (PPP4) is a ubiquitous essential protein serine/threonine phosphatase found in higher eukaryotes. Coordinate variation of the levels of the catalytic subunit (PPP4c) and the regulatory subunit (R2)suggests that PPP4c and R2 form a heterodimeric core to which other regulatory subunits bind. Two proteins that specifically co-purify with Flag-epitope-tagged R2 expressed in HEK-293 cells were identified as Gemin3 and Gemin4. These two proteins have been identified previously as components of the Survival of Motor Neurons (SMN) protein complex, which is functionally defective in the hereditary disorder spinal muscular atrophy. Immuno-sedimentation of the epitope-tagged SMN protein complex from HeLa cells expressing CFP-SMN showed that the SMN protein interacts, as previously reported, with Gemin2 (SIP1), Gemin3 and Gemin4 and in addition associates with PPP4c. The SMN complex has been implicated in the assembly and maturation of small nuclear ribonucleoproteins (snRNPs). Expression of GFP-R2–PPP4c in HeLa cells enhances the temporal localisation of newly formed snRNPs, which is consistent with an association of R2-PPP4c with the SMN protein complex.

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Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

Cited by 78 publications

References 39 publications

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

The SMN Complex: An Assembly Machine for RNPs

Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs

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