Allele-specific expression: applications in cancer and technical considerations.
Curr Opin Genet Dev
; 66: 10-19, 2021 02.
Article
in En
| MEDLINE
| ID: mdl-33383480
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Regulatory Sequences, Nucleic Acid
/
Germ-Line Mutation
/
Genetic Predisposition to Disease
/
Neoplasms
Limits:
Humans
Language:
En
Journal:
Curr Opin Genet Dev
Journal subject:
GENETICA
Year:
2021
Document type:
Article
Affiliation country:
Reino Unido