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Allele-specific expression: applications in cancer and technical considerations.

ABSTRACT: Allele-specific gene expression can influence disease traits. Non-coding germline genetic variants that alter regulatory elements can cause allele-specific gene expression and contribute to cancer susceptibility. In tumors, both somatic copy number alterations and somatic single nucleotide variants have been shown to lead to allele-specific expression of genes, many of which are considered drivers of tumor growth. Here, we review recent studies revealing the pervasive presence of this phenomenon in cancer susceptibility and progression. Furthermore, we underscore the importance of careful experimental design and computational analysis for accurate allelic expression quantification and avoidance of false positives. Finally, we discuss additional methodological challenges encountered in cancer studies and in the burgeoning field of single-cell transcriptomics.

SUBMITTER: Robles-Espinoza CD

PROVIDER: S-EPMC7985293 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Allele-specific expression: applications in cancer and technical considerations.

Robles-Espinoza Carla Daniela CD Mohammadi Pejman P Bonilla Ximena X Gutierrez-Arcelus Maria M

Current opinion in genetics & development 20201228

Allele-specific gene expression can influence disease traits. Non-coding germline genetic variants that alter regulatory elements can cause allele-specific gene expression and contribute to cancer susceptibility. In tumors, both somatic copy number alterations and somatic single nucleotide variants have been shown to lead to allele-specific expression of genes, many of which are considered drivers of tumor growth. Here, we review recent studies revealing the pervasive presence of this phenomenon ...[more]

PMID: 33383480

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