Sebastian Preissl

Mar 5, 2024 | nature.com | Sudha Rajderkar |Maria Amaral |Laura Cook |Fabrice Darbellay |Cailyn H. Spurrell |Marco Osterwalder | +9 more

AbstractThe genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies.

Dec 13, 2023 | nature.com | Kangli Wang |Yang Xie |Michael Miller |Zhaoning Wang |Kai Zhang |Antonio Pinto-Duarte | +9 more

AbstractRecent advances in single-cell technologies have led to the discovery of thousands of brain cell types; however, our understanding of the gene regulatory programs in these cell types is far from complete1,2,3,4. Here we report a comprehensive atlas of candidate cis-regulatory DNA elements (cCREs) in the adult mouse brain, generated by analysing chromatin accessibility in 2.3 million individual brain cells from 117 anatomical dissections.

Oct 12, 2023 | science.org | Kimberly Siletti |Nikolas L. Jorstad |Thomas Chartrand |Sebastian Preissl

Published In ScienceVolume 382 | Issue 666713 October 2023Article versionsSubmission historyReceived: 9 November 2022Accepted: 14 September 2023Published in print: 13 October 2023PermissionsRequest permissions for this article. AcknowledgmentsThis publication was supported by and coordinated through BICCN. This publication is part of the Human Cell Atlas (www.humancellatlas.org/publications). We thank E. Melief, A. Schantz, K. Kern, A. Keen, and L.

May 25, 2023 | nature.com | Joshua Chiou |Jee Yun Han |Nikita Kadakia |Joan Camunas-Soler |Theodore dos Santos |Seung K. Kim | +2 more

AbstractDysfunctional pancreatic islet beta cells are a hallmark of type 2 diabetes (T2D), but a comprehensive understanding of the underlying mechanisms, including gene dysregulation, is lacking. Here we integrate information from measurements of chromatin accessibility, gene expression and function in single beta cells with genetic association data to nominate disease-causal gene regulatory changes in T2D.

May 9, 2023 | nature.com | Sebastian Preissl |Bing Ren

Authors and AffiliationsDepartment of Paediatrics, Paediatric Diabetes Research Center, University of California San Diego School of Medicine, La Jolla, CA, USAKyle J.