دورية أكاديمية
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Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers.

التفاصيل البيبلوغرافية
العنوان: Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers.
المؤلفون: Bordeira-Carriço R; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal., Teixeira J; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal.; Doctoral program in Molecular and Cell Biology (MCbiology), ICBAS-Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal., Duque M; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal.; Doctoral program in Molecular and Cell Biology (MCbiology), ICBAS-Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal., Galhardo M; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Ciências, Tecnologias e Agroambiente (CIBIO), Universidade do Porto, 4051-401, Porto, Portugal., Ribeiro D; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal., Acemel RD; Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide, Sevilla, 41013, Spain., Firbas PN; Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide, Sevilla, 41013, Spain., Tena JJ; Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide, Sevilla, 41013, Spain., Eufrásio A; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal.; Doctoral program in Molecular and Cell Biology (MCbiology), ICBAS-Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal., Marques J; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal., Ferreira FJ; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal.; Doctoral program in Areas of Basic and Applied Biology (GABBA), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, 4050-313, Portugal., Freitas T; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal., Carneiro F; Departamento de Patologia, Faculdade de Medicina da Universidade do Porto (FMUP), Porto, 4200-319, Portugal.; Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, 4200-465, Portugal., Goméz-Skarmeta JL; Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide, Sevilla, 41013, Spain., Bessa J; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, 4200-135, Portugal. jose.bessa@ibmc.up.pt.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, 4200-135, Portugal. jose.bessa@ibmc.up.pt.
المصدر: Nature communications [Nat Commun] 2022 Apr 11; Vol. 13 (1), pp. 1945. Date of Electronic Publication: 2022 Apr 11.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Enhancer Elements, Genetic*/genetics , Zebrafish*/genetics, Animals ; Chromatin/genetics ; Genome-Wide Association Study ; Pancreas
مستخلص: The pancreas is a central organ for human diseases. Most alleles uncovered by genome-wide association studies of pancreatic dysfunction traits overlap with non-coding sequences of DNA. Many contain epigenetic marks of cis-regulatory elements active in pancreatic cells, suggesting that alterations in these sequences contribute to pancreatic diseases. Animal models greatly help to understand the role of non-coding alterations in disease. However, interspecies identification of equivalent cis-regulatory elements faces fundamental challenges, including lack of sequence conservation. Here we combine epigenetic assays with reporter assays in zebrafish and human pancreatic cells to identify interspecies functionally equivalent cis-regulatory elements, regardless of sequence conservation. Among other potential disease-relevant enhancers, we identify a zebrafish ptf1a distal-enhancer whose deletion causes pancreatic agenesis, a phenotype previously found to be induced by mutations in a distal-enhancer of PTF1A in humans, further supporting the causality of this condition in vivo. This approach helps to uncover interspecies functionally equivalent cis-regulatory elements and their potential role in human disease.
(© 2022. The Author(s).)
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المشرفين على المادة: 0 (Chromatin)
تواريخ الأحداث: Date Created: 20220412 Date Completed: 20220413 Latest Revision: 20221113
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9001708
DOI: 10.1038/s41467-022-29551-7
PMID: 35410466
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-022-29551-7