Long-Read MDM4 Sequencing Reveals Aberrant Isoform Landscape in Metastatic Melanomas.

ABSTRACT: MDM4 is upregulated in the majority of melanoma cases and has been described as a "key therapeutic target in cutaneous melanoma". Numerous isoforms of MDM4 exist, with few studies examining their specific expression in human tissues. The changes in splicing of MDM4 during human melanomagenesis are critical to p53 activity and represent potential therapeutic targets. Compounding this, studies relying on short reads lose "connectivity" data, so full transcripts are frequently only inferred from the presence of splice junction reads. To address this problem, long-read nanopore sequencing was utilized to read the entire length of transcripts. Here, MDM4 transcripts, both alternative and canonical, are characterized in a pilot cohort of human melanoma specimens. RT-PCR was first used to identif

SUBMITTER: Patrick N 

PROVIDER: S-EPMC11395681 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature