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English

Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome

Contributors

Nica, Alexandra; Ongen, Halit; Irminger, Jean-Claude; Bosco, Domenico; Berney, Thierry; Antonarakis, Stylianos; Halban, Philippe A.; Dermitzakis, Emmanouil

Published in

Genome research, vol. 23, no. 9, p. 1554-1562

Publication date

2013

Abstract

Elucidating the pathophysiology and molecular attributes of common disorders as well as developing targeted and effective treatments hinges on the study of the relevant cell type and tissues. Pancreatic beta cells within the islets of Langerhans are centrally involved in the pathogenesis of both type 1 and type 2 diabetes. Describing the differentiated state of the human beta cell has been hampered so far by technical (low resolution microarrays) and biological limitations (whole islet preparations rather than isolated beta cells). We circumvent these by deep RNA sequencing of purified beta cells from 11 individuals, presenting here the first characterization of the human beta cell transcriptome. We perform the first comparison of gene expression profiles between beta cells, whole islets and beta cell depleted islet preparations, revealing thus beta cell specific expression and splicing signatures. Further, we demonstrate that genes with consistent increased expression in beta cells have neuronal-like properties, a signal previously hypothesized. Finally, we find evidence for extensive allelic imbalance in expression and uncover genetic regulatory variants (eQTLs) active in beta cells. This first molecular blueprint of the human beta cell offers biological insight into its differentiated function including expression of key genes associated with both major types of diabetes.

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

NICA, Alexandra et al. Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome. In: Genome research, 2013, vol. 23, n° 9, p. 1554–1562. doi: 10.1101/gr.150706.112

Main files (1)

Article (Accepted version)

Identifiers

Journal ISSN

1088-9051
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639downloads

Technical informations

Creation

18/06/2013 14:10:00

First validation

18/06/2013 14:10:00

Update

14/03/2023 20:20:27

Status update

14/03/2023 20:20:26

Last indexation

30/10/2024 09:47:04
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