NSrp70 is significant for embryonic growth and development, being a crucial factor for gastrulation and mesoderm induction

Lee, Soo-Ho; Kim, Chowon; Lee, Hyun-Kyung; Kim, Yoo-Kyung; Ismail, Tayaba; Jeong, Youngeun; Park, Kyung-Yeon; Park, Mae-Ja; Park, Do‐Sim; Lee, Hyun‐Shik

doi:10.1016/j.bbrc.2016.09.051

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…A genome‐wide analysis of the alternative isoform expression revealed that alternative splicing and isoform‐specific expression were frequently observed during the development of early mouse embryo . Previous studies have reported the implication of alternative splicing mediated by RRM proteins in early embryonic development . RBM14 was originally reported to be a general nuclear coactivator that interacts with thyroid hormone receptor‐binding protein (TRBP) to regulate the activation of gene transcription .…”

Section: Discussionmentioning

confidence: 99%

“…34 Previous studies have reported the implication of alternative splicing mediated by RRM proteins in early embryonic development. [35][36][37] RBM14 was originally reported to be a general nuclear coactivator that interacts with thyroid hormone receptor-binding protein (TRBP) to regulate the activation of gene transcription. 38 Further studies revealed roles of Rbm14 in preserving the mitotic spindle integrity 20 and regulation of DNA virus-mediated innate immune response.…”

Section: Rbm14 Regulates Alternative Splicing Of Ddrrelated Genesmentioning

confidence: 99%

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Rbm14 maintains the integrity of genomic DNA during early mouse embryogenesis via mediating alternative splicing

Wang

Feng

et al. 2019

Cell Proliferation

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Section: Discussionmentioning

confidence: 99%

Section: Rbm14 Regulates Alternative Splicing Of Ddrrelated Genesmentioning

confidence: 99%

Rbm14 maintains the integrity of genomic DNA during early mouse embryogenesis via mediating alternative splicing

Wang

Feng

et al. 2019

Cell Proliferation

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“…Based on this structure, NSrp70 belongs to the SR protein family and plays an important role in alternative splicing [9]. To date, functional studies into NSrp70 have focused on schizophrenia [10], embryonic development [11], and adult acute leukemia [12]. However, the function of NSrp70 in carcinoma remains unknown.…”

Section: Introductionmentioning

confidence: 99%

NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TβR1/EMT axis

Zhao

Sun

Zhao

et al. 2021

Preprint

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Metastasis is a major cause of death in individuals suffering from triple-negative breast cancer. Alternative splicing of mRNA precursor allows cancer cells to create different protein isoforms which may promote metastasis. Quantitative proteomic analysis of primary and metastatic breast cancer cells revealed that nuclear speckle-related protein 70 (NSrp70) was significantly downregulated in highly metastatic cells. Downregulation of NSrp70 promoted the migration and invasion of breast cancer cells in vitro and in vivo. Mechanistically, we found that NSrp70 inhibited the skipped exon alternative splicing of NUMB, promoted the degradation of TGF-beta receptor 1(TβR1) through lysosome pathway, and regulated TGFβ/SMAD-mediated epithelial-mesenchymal transition (EMT) phenotype in breast cancer cells. Furthermore, high NSrp70 expression correlated with better prognosis in breast cancer patients. Our findings revealed that splicing regulator NSrp70 may serve as a metastasis suppressor.

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A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal

Neuens,

Kausar,

Kang

et al. 2024

American J of Med Genetics Pt A

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Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a splice factor found in nuclear speckles, which are small membrane‐free organelles implicated in epigenetic regulation, chromatin organization, DNA repair, and RNA modification. Bi‐allelic loss‐of‐function variants in NSRP1 have recently been identified in patients suffering from a severe neurodevelopmental disorder, presenting with neurodevelopmental delay, epilepsy, microcephaly, hypotonia, and spastic cerebral palsy. Described patients acquired neither independent walking nor speech and often showed anomalies on cerebral MRI. Here we describe the case of a 14‐year‐old girl with motor and language delay as well as intellectual disability, who presents an ataxic gait but walks without assistance and speaks in short sentences. Whole‐genome sequencing revealed the compound heterozygous NSRP1 variants c.114 + 2T > G and c.1595T > A (p.Val532Glu). Functional validation using HEK293T cells transfected with either wild‐type or mutated GFP‐tagged Nsrp1 suggests that the Val532Glu variant interferes with the function of the nuclear localization signal, and leads to mislocalization of NSRP1 in the cytosol, thus confirming the pathogenicity of the observed variant. This case helps to expand the phenotypic and genetic spectrum associated with pathogenic NSRP1 variants and indicates that this diagnosis should also be suspected in patients with milder phenotypes.

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NSrp70 is significant for embryonic growth and development, being a crucial factor for gastrulation and mesoderm induction

Cited by 6 publications

References 27 publications

Rbm14 maintains the integrity of genomic DNA during early mouse embryogenesis via mediating alternative splicing

Rbm14 maintains the integrity of genomic DNA during early mouse embryogenesis via mediating alternative splicing

NSrp70 suppresses metastasis in triple-negative breast cancer by modulating Numb/TβR1/EMT axis

A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal

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