2017
DOI: 10.3390/ijms18030576
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The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

Abstract: Abnormalities in alternative splicing (AS) are emerging as recurrent features in autoimmune diseases (AIDs). In particular, a growing body of evidence suggests the existence of a pathogenic association between a generalized defect in splicing regulatory genes and multiple sclerosis (MS). Moreover, several studies have documented an unbalance in alternatively-spliced isoforms in MS patients possibly contributing to the disease etiology. In this work, using a combination of PCR-based techniques (reverse-transcri… Show more

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Cited by 88 publications
(63 citation statements)
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“…The effect of the splice variants identified in the proband was evaluated amplifying OTUD6B exons 1–4 by RT-PCR (forward primer: 5′-GCATCGCAAAGAGAAGAAGG-3′; reverse primer: 5′-TCTCAAGGCAACCACAGTCA-3′) and analyzing the obtained products by Sanger sequencing. To quantify the aberrant splicing isoforms, a competitive-fluorescent RT-PCR assay was performed using the same primer pair with the forward primer labeled with the 6-FAM fluorophore, essentially as described in Cardamone et al (2017) . Briefly, 1 μl of cDNA was amplified using the GoTaq polymerase (Promega) with a touchdown cycling program (from 67°C to 59°C) for a total of 40 cycles.…”
Section: Methodsmentioning
confidence: 99%
“…The effect of the splice variants identified in the proband was evaluated amplifying OTUD6B exons 1–4 by RT-PCR (forward primer: 5′-GCATCGCAAAGAGAAGAAGG-3′; reverse primer: 5′-TCTCAAGGCAACCACAGTCA-3′) and analyzing the obtained products by Sanger sequencing. To quantify the aberrant splicing isoforms, a competitive-fluorescent RT-PCR assay was performed using the same primer pair with the forward primer labeled with the 6-FAM fluorophore, essentially as described in Cardamone et al (2017) . Briefly, 1 μl of cDNA was amplified using the GoTaq polymerase (Promega) with a touchdown cycling program (from 67°C to 59°C) for a total of 40 cycles.…”
Section: Methodsmentioning
confidence: 99%
“… 3 , 4 , 5 In addition, circRNAs also participate in the translation of proteins. 6 , 7 Previous studies have reported that circRNAs possess cell-type-specific and tissue-type-specific expression 5 , 8 , 9 and are involved in pathogenesis of various human diseases such as cardiovascular diseases, 10 , 11 , 12 , 13 neural systemic diseases, 14 , 15 , 16 , 17 osteoarthritis, 18 diabetes mellitus, 19 and particularly in human cancers, 20 , 21 , 22 , 23 , 24 including urological cancers. 25 , 26 The roles and mechanisms of circRNAs in different types of human cancers have been largely explored recently.…”
Section: Introductionmentioning
confidence: 99%
“…We hypothesise that this extensive unproductive splicing may participate to the regulation of the expression levels of PKHD1, through a mechanism of gene regulation known as alternative splicing-coupled nonsense-mediated decay (AS-NMD) (42)(43)(44). Disturbance to this process, induced by splicing variants such as c.6900C>T p.(Asn2300=), can contribute to the pathogenicity of ARPKD, as previously shown for cancer and autoimmune diseases (45)(46)(47). The synonymous variant p. (Asn2300=), by promoting the production of the premature stop codon-containing transcript B, may decrease the levels of PKHD1 expression below a certain threshold required for its normal function.…”
Section: Discussionmentioning
confidence: 76%