A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase

2021 ◽  
Author(s):  
María Arriba ◽  
Josep Oriola ◽  
Begoña Ezquieta
Keyword(s):  
Mrna Splicing ◽  
Synonymous Variant ◽  
Splicing Site

scholarly journals Identification of eight exonic variants in the SLC4A1, ATP6V1B1 and ATP6V0A4 gene that alter RNA splicing by minigene assay

2021 ◽  
Author(s):  
Ruixiao Zhang ◽  
Zeqing Chen ◽  
Qijing Song ◽  
Sai Wang ◽  
Zhiying Liu ◽  
...  
Keyword(s):  
Rna Splicing ◽  
Mrna Level ◽  
Exon Skipping ◽  
Regulatory Elements ◽  
Mrna Splicing ◽  
Splicing Regulatory Elements ◽  
Renal Tubular ◽  
Splicing Site ◽  
Minigene Assay

Primary distal renal tubular acidosis (dRTA) is a rare tubular disease associated with variants in SLC4A1, ATP6V0A4, ATP6V1B1, FOXⅠ1 or WDR72 genes. Currently, there is growing evidence that all types of exonic variants can alter splicing regulatory elements, affecting the pre-mRNA splicing process. This study was to determine the consequences of variants associated with dRTA on pre-mRNA splicing combined with predictive bioinformatics tools and minigene assay. As a result, among the 15 candidate variants, 8 variants distributed in SLC4A1 (c.1765C>T, p.Arg589Cys), ATP6V1B1( c.368G>T, p.Gly123Val; c.370C>T, p.Arg124Trp; c.484G>T, p.Glu162* and c.1102G>A, p.Glu368Lys) and ATP6V0A4 genes (c.322C>T, p.Gln108*; c.1571C>T, p.Pro524Leu and c.1572G>A, p.Pro524Pro) were identified to result in whole or part of exon skipping by either disruption of ESEs and generation of ESSs, or interference with the recognition of the classic splicing site, or both. To our knowledge, this is the first study on pre-mRNA splicing of exonic variants in the dRTA-related genes. These results highlight the importance of assessing the effects of exonic variants at the mRNA level and suggest that minigene analysis is an effective tool for evaluating the effects of splicing on variants in vitro

scholarly journals Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis

Bone ◽  
2009 ◽  
Vol 45 (4) ◽  
pp. 736-742 ◽  
Author(s):  
Christopher Vidal ◽  
Adela Cachia ◽  
Angela Xuereb-Anastasi
Keyword(s):  
Mrna Splicing ◽  
Synonymous Variant ◽  
Exon 9

Non-expression of HLA-A*2901102 N is caused by a nucleotide exchange in the mRNA splicing site at the beginning of intron 4

2002 ◽  
Vol 59 (2) ◽  
pp. 139-141 ◽  
Author(s):  
H.-A. Elsner ◽  
G. Bernard ◽  
B. Eiz-Vesper ◽  
M. De Matteis ◽  
A. Bernard ◽  
...  
Keyword(s):  
Mrna Splicing ◽  
Nucleotide Exchange ◽  
Intron 4 ◽  
Splicing Site

Natural rules for Arabidopsis thaliana pre-mRNA splicing site selection

2012 ◽  
Vol 7 (4) ◽  
pp. 620-625
Author(s):  
Ning Wu ◽  
Kanyand Matand ◽  
Huijuan Wu ◽  
Baoming Li ◽  
Kayla Love ◽  
...  
Keyword(s):  
Arabidopsis Thaliana ◽  
Quantitative Analysis ◽  
Site Selection ◽  
Sequence Data ◽  
Consensus Sequence ◽  
Mrna Splicing ◽  
Additional Information ◽  
Multiple Factors ◽  
Site Recognition ◽  
Splicing Site

AbstractThe accurate prediction of plant pre-mRNA splicing sites has been studied extensively. The rules for plant pre-mRNA splicing still remain unknown. This study, based on confirmed sequence data, systematically analyzed all expressed genes on Arabidopsis thaliana chromosome IV to quantitatively explore the natural splicing rules. The results indicated that defining Arabidopsis thaliana pre-mRNA splicing sites required a combination of multiple factors including (1) relative conserved consensus sequence at splicing site; (2) individual nucleotide distribution pattern in 50 nucleotides up- and down-stream regions of splicing site; (3) quantitative analysis of individual nucleotide distribution by using the formulations concluded from this study. The combination of all these factors together can bring the accuracy of Arabidopsis thaliana splicing site recognition over 99%. The results provide additional information to the future of plant pre-mRNA splicing research.

Organization of transcription and pre-mRNA splicing within the mammalian cell nucleus

1995 ◽  
Vol 53 ◽  
pp. 768-769
Author(s):  
D.L. Spector ◽  
S. Huang ◽  
S. Kaurin
Keyword(s):  
Rna Polymerase Ii ◽  
Cell Nucleus ◽  
Functional Organization ◽  
Mrna Splicing ◽  
Splicing Factors ◽  
Interchromatin Granule Clusters ◽  
Interchromatin Granule ◽  
Nuclear Regions ◽  
Relationship Of ◽  
Perichromatin Fibrils

We have been interested in the organization of RNA polymerase II transcription and pre-mRNA splicing within the cell nucleus. Several models have been proposed for the functional organization of RNA within the eukaryotic nucleus and for the relationship of this organization to the distribution of pre-mRNA splicing factors. One model suggests that RNAs which must be spliced are capable of recruiting splicing factors to the sites of transcription from storage and/or reassembly sites. When one examines the organization of splicing factors in the nucleus in comparison to the sites of chromatin it is clear that splicing factors are not localized in coincidence with heterochromatin (Fig. 1). Instead, they are distributed in a speckled pattern which is composed of both perichromatin fibrils and interchromatin granule clusters. The perichromatin fibrils are distributed on the periphery of heterochromatin and on the periphery of interchromatin granule clusters as well as being diffusely distributed throughout the nucleoplasm. These nuclear regions have been previously shown to represent initial sites of incorporation of 3H-uridine.

Regulation of insulin receptor mRNA splicing in rat tissues. Effect of fasting, aging, and diabetes

Diabetes ◽  
1995 ◽  
Vol 44 (10) ◽  
pp. 1196-1201 ◽  
Author(s):  
H. Vidal ◽  
D. Auboeuf ◽  
M. Beylot ◽  
J. P. Riou
Keyword(s):  
Insulin Receptor ◽  
Mrna Splicing ◽  
Rat Tissues ◽  
Receptor Mrna

Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders

2012 ◽  
Vol 14 (3) ◽  
pp. 239-252
Keyword(s):  
Molecular Mechanisms ◽  
Protein Localization ◽  
Regulation Of Gene Expression ◽  
Neuronal Cell ◽  
Mrna Splicing ◽  
Genetic Mutations ◽  
Scaffolding Proteins ◽  
Molecular Processes ◽  
Genetic Studies ◽  
Novel Treatments

In this review, we outline critical molecular processes that have been implicated by discovery of genetic mutations in autism. These mechanisms need to be mapped onto the neurodevelopment step(s) gone awry that may be associated with cause in autism. Molecular mechanisms include: (i) regulation of gene expression; (ii) pre-mRNA splicing; (iii) protein localization, translation, and turnover; (iv) synaptic transmission; (v) cell signaling; (vi) the functions of cytoskeletal and scaffolding proteins; and (vii) the function of neuronal cell adhesion molecules. While the molecular mechanisms appear broad, they may converge on only one of a few steps during neurodevelopment that perturbs the structure, function, and/or plasticity of neuronal circuitry. While there are many genetic mutations involved, novel treatments may need to target only one of few developmental mechanisms.

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