Publications by authors named "Teresa L Sullivan"
Article Synopsis
- - The high number of variants of uncertain significance (VUS) in cancer-related genes, particularly BRCA2, is due to insufficient epidemiological data, prompting the need for advanced functional assessments.
- - This study introduces a CRISPR-Cas9-based high-throughput functional assay using humanized-mouse embryonic stem cells to evaluate the functional significance of 599 BRCA2 variants, including responses to DNA-damaging medications like cisplatin and olaparib.
- - By leveraging this approach, researchers successfully categorized 252 single-nucleotide variants from BRCA2 exon 13 into functional and non-functional groups, highlighting the potential of saturation genome editing combined with drug sensitivity tests in clarifying the roles of BRCA
Background: The ongoing mobilization of mammalian transposable elements (TEs) contributes to natural genetic variation. To survey the epigenetic control and expression of reporter genes inserted by L1 retrotransposition in diverse cellular and genomic contexts, we engineered highly sensitive, real-time L1 retrotransposon reporter constructs.
Results: Here we describe different patterns of expression and epigenetic controls of newly inserted sequences retrotransposed by L1 in various somatic cells and tissues including cultured human cancer cells, mouse embryonic stem cells, and tissues of pseudofounder transgenic mice and their progeny.