Differential Expression of BARD1 Isoforms in Melanoma.
Genes (Basel)
; 12(2)2021 02 23.
Article
em En
| MEDLINE
| ID: mdl-33672422
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 (γ, φ, δ, ε, and η) contributing to a large proportion of the expressed transcripts. In addition, we identified four novel splice events, namely, Δ(E3_E9), â¼(i8), IVS10+131â¼46, and IVS10â¼176, 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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Processamento Alternativo
/
Isoformas de Proteínas
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Proteínas Supressoras de Tumor
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Ubiquitina-Proteína Ligases
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Melanoma
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article