Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.
| Authors | |
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| Year of publication | 2023 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Intronic variants do not change a gene coding sequence but they can impact gene function via aberrant RNA splicing. The creation of a new AG dinucleotide in the AG exclusion zone of the acceptor splice site typically causes its utilization, or exon skipping. This kind of alteration was revealed in intron 15 of RAD50 gene (NM_005732.4:c.2525-13T>A). RAD50 gene is involved in sensing and repairing DNA damage. The computational prediction for the RAD50 variant’s potential impact on RNA splicing was predicted by SpliceAI and acceptor splice site strengths were calculated using MaxEntScan. Branch-point predictions were processed by LaBranchoR. The transcript profile was determined using two-step PCR followed by capillary electrophoresis. The quantification of mutated allele ratio was performed by a minigene assay. |
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