Using laser-capture microdissection and whole-genome sequencing of individual crypts, we characterized the landscape of somatic mutations in human small intestinal epithelium. Mutational signatures of APOBEC mutagenesis were found frequently and are probably due to the activity of APOBEC1, which is expressed at high levels in the small intestine.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Alexandrov, L. B. et al. The repertoire of mutational signatures in human cancer. Nature 578, 94–101 (2020). This paper summarizes mutational signatures in human cancer and the mutational burden that they contribute.
Moore, L. et al. The mutational landscape of human somatic and germline cells. Nature 597, 381–386 (2021). This paper presents mutational signatures in multiple human tissues.
Petljak, M. & Maciejowski, J. Molecular origins of APOBEC-associated mutations in cancer. DNA Repair 94, 102905 (2020). A review article that summarizes available evidence around the APOBEC deaminases that are responsible for cancer mutagenesis.
Nik-Zainal, S. et al. Mutational processes molding the genomes of 21 breast cancers. Cell 149, 979–993 (2012). This paper proposes the activity of specific members of the APOBEC family of cytidine deaminases as possible cause for APOBEC mutational signatures in cancers.
Teng, B., Burant, C. F. & Davidson, N. O. Molecular cloning of an apolipoprotein B messenger RNA editing protein. Science 260, 1816–1819 (1993). This paper identifies APOBEC1 and establishes its role as the mRNA-editing enzyme for apolipoprotein B, a crucial component of lipoproteins that are responsible for carrying lipids.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This is a summary of: Wang, Y. et al. APOBEC mutagenesis is a common process in normal human small intestine. Nat. Genet. https://doi.org/10.1038/s41588-022-01296-5 (2023).
Rights and permissions
About this article
Cite this article
Mutational signatures in human small intestinal crypts indicate APOBEC mutagenesis. Nat Genet 55, 176–177 (2023). https://doi.org/10.1038/s41588-023-01304-2
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41588-023-01304-2
