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Brief Report

Differential Expression of BARD1 Isoforms in Melanoma

Department of Pathology, Otago Medical School, Dunedin Campus, University of Otago, Dunedin 9010, New Zealand
Department of Biology and Medical Genetics, Medical University of Gdansk, 80-211 Gdansk, Poland
Department of Pathology and Biomedical Science, University of Otago, Christchurch 8011, New Zealand
Department of Tumour Pathology, Maria Sklodowska-Curie National Research Institute of Oncology, Cracow Branch, 8011 Cracow, Poland
Department of Clinical Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Cracow Branch, 8011 Cracow, Poland
Maurice Wilkins Centre for Molecular Biodiscovery, Auckland 1010, New Zealand
Author to whom correspondence should be addressed.
Authors contributed equally to this work.
Academic Editors: Rajiv Kumar and Robert Winqvist
Genes 2021, 12(2), 320;
Received: 24 December 2020 / Revised: 12 February 2021 / Accepted: 20 February 2021 / Published: 23 February 2021
(This article belongs to the Special Issue BARD1 in Cancer)
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), ▼(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. View Full-Text
Keywords: melanoma; BARD1; nanopore sequencing; RNA-Seq melanoma; BARD1; nanopore sequencing; RNA-Seq
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MDPI and ACS Style

McDougall, L.I.; Powell, R.M.; Ratajska, M.; Lynch-Sutherland, C.F.; Hossain, S.M.; Wiggins, G.A.R.; Harazin-Lechowska, A.; Cybulska-Stopa, B.; Motwani, J.; Macaulay, E.C.; Reid, G.; Walker, L.C.; Ryś, J.; Eccles, M.R. Differential Expression of BARD1 Isoforms in Melanoma. Genes 2021, 12, 320.

AMA Style

McDougall LI, Powell RM, Ratajska M, Lynch-Sutherland CF, Hossain SM, Wiggins GAR, Harazin-Lechowska A, Cybulska-Stopa B, Motwani J, Macaulay EC, Reid G, Walker LC, Ryś J, Eccles MR. Differential Expression of BARD1 Isoforms in Melanoma. Genes. 2021; 12(2):320.

Chicago/Turabian Style

McDougall, Lorissa I., Ryan M. Powell, Magdalena Ratajska, Chi F. Lynch-Sutherland, Sultana M. Hossain, George A.R. Wiggins, Agnieszka Harazin-Lechowska, Bożena Cybulska-Stopa, Jyoti Motwani, Erin C. Macaulay, Glen Reid, Logan C. Walker, Janusz Ryś, and Michael R. Eccles. 2021. "Differential Expression of BARD1 Isoforms in Melanoma" Genes 12, no. 2: 320.

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