scholarly journals Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon

2020 ◽  
Author(s):  
Wen-jing Yang ◽  
Ai-zhen Yan ◽  
Yong-jun Xu ◽  
Xiao-yan Guo ◽  
Xian-guo Fu ◽  
...  
Keyword(s):  
Signaling Pathways ◽  
Fragile X ◽  
Eukaryotic Expression ◽  
Expression Vectors ◽  
Biological Functions ◽  
Normal Individuals ◽  
Mental Retardation Protein ◽  
Alternatively Spliced ◽  
And Function ◽  
Novel Exon

Abstract Background: the disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140 bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. Results: qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed. Conclusions: our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.

scholarly journals Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon

2020 ◽  
Author(s):  
Wen-jing Yang ◽  
Ai-zhen Yan ◽  
Yong-jun Xu ◽  
Xiao-yan Guo ◽  
Xian-guo Fu ◽  
...  
Keyword(s):  
Signaling Pathways ◽  
Fragile X ◽  
Eukaryotic Expression ◽  
Fmr1 Gene ◽  
Expression Vectors ◽  
Biological Functions ◽  
Normal Individuals ◽  
Mental Retardation Protein ◽  
Alternatively Spliced ◽  
And Function

Abstract Background:the disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140 bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. Results: qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed. Conclusions: our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.

scholarly journals Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon

2020 ◽  
Author(s):  
Fenghua Lan ◽  
Wen-jing Yang ◽  
Juan Liao ◽  
Yong-jun Xu ◽  
Xiao-yan Guo ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Signaling Pathways ◽  
Fragile X ◽  
Eukaryotic Expression ◽  
Expression Vectors ◽  
Biological Functions ◽  
Cryptic Exon ◽  
Normal Individuals ◽  
Alternatively Spliced ◽  
And Function

Abstract The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms are remain elusive. In previous study, we identified a new cryptic exon of 140bp from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. qRT-PCR results showed that this novel exon was commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140bp sequence are only found in the genomes of primates. To explore the biological functions of the new transcript, recombinant eukaryotic expression vectors and lentiviral overexpression vectors were constructed. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, a few genes including BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways was significantly influenced when the truncated FMRP was overexpressed. Our work emphasized the notion that the alternative splicing of FMR1 gene is complex which may in a large part account for the multiple functions of FMRP protein.

scholarly journals Zfrp8 forms a complex with fragile-X mental retardation protein and regulates its localization and function

2016 ◽  
Vol 410 (2) ◽  
pp. 202-212 ◽  
Author(s):  
William Tan ◽  
Curtis Schauder ◽  
Tatyana Naryshkina ◽  
Svetlana Minakhina ◽  
Ruth Steward
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
And Function

scholarly journals Bicaudal-D Regulates Fragile X Mental Retardation Protein Levels, Motility, and Function during Neuronal Morphogenesis

2010 ◽  
Vol 20 (16) ◽  
pp. 1487-1492 ◽  
Author(s):  
Ambra Bianco ◽  
Martin Dienstbier ◽  
Hannah K. Salter ◽  
Graziana Gatto ◽  
Simon L. Bullock
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Neuronal Morphogenesis ◽  
Protein Levels ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
And Function

Structure and Function of Angiopoietin-like Protein 3 (ANGPTL3) in Atherosclerosis

2020 ◽  
Vol 27 (31) ◽  
pp. 5159-5174 ◽  
Author(s):  
Xinjie Lu
Keyword(s):  
Low Density Lipoprotein ◽  
Lipoprotein Metabolism ◽  
Density Lipoprotein ◽  
Structure And Function ◽  
Biological Functions ◽  
Pharmacological Management ◽  
Vascular Growth ◽  
Promising Target ◽  
And Function ◽  
Systematic Appraisal

Background:Angiopoietin-Like Proteins (ANGPTLs) are structurally related to the angiopoietins. A total of eight ANGPTLs (from ANGPTL1 to ANGPTL8) have been identified so far. Most ANGPTLs possess multibiological functions on lipid metabolism, atherosclerosis, and cancer. Among them, ANGPTL3 has been shown to regulate the levels of Very Low-Density Lipoprotein (VLDL) made by the liver and play a crucial role in human lipoprotein metabolism.Method:A systematic appraisal of ANGPTLs was conducted, focusing on the main features of ANGPTL3 that has a significant role in atherosclerosis.Results:Angiopoietins including ANGPTL3 are vascular growth factors that are highly specific for endothelial cells, perform a variety of other regulatory activities to influence inflammation, and have been shown to possess both pro-atherosclerotic and atheroprotective effects.Conclusion:ANGPTL3 has been demonstrated as a promising target in the pharmacological management of atherosclerosis. However, many questions remain about its biological functions.

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