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Differential Expression of BARD1 Isoforms in Melanoma.


ABSTRACT: Melanoma comprises <5% of cutaneous malignancies, yet it causes a significant proportion of skin cancer-related deaths worldwide. While new therapies for melanoma have been developed, not all patients respond well. Thus, further research is required to better predict patient outcomes. Using long-range nanopore sequencing, RT-qPCR, and RNA sequencing analyses, we examined the transcription of BARD1 splice isoforms in melanoma cell lines and patient tissue samples. Seventy-six BARD1 mRNA variants were identified in total, with several previously characterised isoforms (?, ?, ?, ?, and ?) contributing to a large proportion of the expressed transcripts. In addition, we identified four novel splice events, namely, ?(E3_E9), ?(i8), IVS10+131?46, and IVS10?176, occurring in various combinations in multiple transcripts. We found that short-read RNA-Seq analyses were limited in their ability to predict isoforms containing multiple non-contiguous splicing events, as compared to long-range nanopore sequencing. These studies suggest that further investigations into the functional significance of the identified BARD1 splice variants in melanoma are warranted.

SUBMITTER: McDougall LI 

PROVIDER: S-EPMC7927127 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Melanoma comprises <5% of cutaneous malignancies, yet it causes a significant proportion of skin cancer-related deaths worldwide. While new therapies for melanoma have been developed, not all patients respond well. Thus, further research is required to better predict patient outcomes. Using long-range nanopore sequencing, RT-qPCR, and RNA sequencing analyses, we examined the transcription of <i>BARD1</i> splice isoforms in melanoma cell lines and patient tissue samples. Seventy-six <i>BARD1</i>  ...[more]

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