A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci

Autor: Amelia C. Joslin, Débora R. Sobreira, Grace T. Hansen, Noboru J. Sakabe, Ivy Aneas, Lindsey E. Montefiori, Kathryn M. Farris, Jing Gu, Donna M. Lehman, Carole Ober, Xin He, Marcelo A. Nóbrega

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Many genetic loci have been linked to obesity, but knowledge of their functional mechanisms is limited. Here, the authors perform reporter assays and temporal functional genomics data generation to characterize obesity genetic loci and find that loci

Externí odkaz: https://doaj.org/article/fb7e892c9745454a8d337ec16d1a90bb

A promoter interaction map for cardiovascular disease genetics

Autor: Lindsey E Montefiori, Debora R Sobreira, Noboru J Sakabe, Ivy Aneas, Amelia C Joslin, Grace T Hansen, Grazyna Bozek, Ivan P Moskowitz, Elizabeth M McNally, Marcelo A Nóbrega

Publikováno v: eLife, Vol 7 (2018)

Over 500 genetic loci have been associated with risk of cardiovascular diseases (CVDs); however, most loci are located in gene-distal non-coding regions and their target genes are not known. Here, we generated high-resolution promoter capture Hi-C (P

Externí odkaz: https://doaj.org/article/074cffa7559f4a5c8b6225ec57ffee68

Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5

Autor: Débora R. Sobreira, Kyle H. Flippo, Matthew J. Potthoff, Iain Williamson, Amelia C Joslin, Noboru J. Sakabe, Qi Zhang, Melina Claussnitzer, Carole Ober, Nasa Sinnott-Armstrong, Ivy Aneas, Wendy A. Bickmore, Marcelo A. Nobrega, Mengjie Chen, Sharon O. Jensen-Cody, Grace T Hansen, Kathryn M. Farris, Grazyna Bozek

Publikováno v: Sobreira, D R, Joslin, A C, Zhang, Q, Williamson, I, Hansen, G T, Farris, K M, Sakabe, N J, Sinnott-Armstrong, N, Bozek, G, Jensen-Cody, S O, Flippo, K H, Ober, C, Bickmore, W A, Potthoff, M, Chen, M, Claussnitzer, M, Aneas, I & Nobrega, M A 2021, ' Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5 ', Science . https://doi.org/10.1126/science.abf1008

Obesity genes working together The biological causes of obesity are not well understood. Sobreira et al. examined the chromatin interactions between key genes in a locus known for its associations with obesity in human patients. In addition to direct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db253d5d6d20509f884f3b62d93952d1
https://hdl.handle.net/20.500.11820/f8655a32-0332-4467-b5c4-31feb661cef8

Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of

Autor: Débora R, Sobreira, Amelia C, Joslin, Qi, Zhang, Iain, Williamson, Grace T, Hansen, Kathryn M, Farris, Noboru J, Sakabe, Nasa, Sinnott-Armstrong, Grazyna, Bozek, Sharon O, Jensen-Cody, Kyle H, Flippo, Carole, Ober, Wendy A, Bickmore, Matthew, Potthoff, Mengjie, Chen, Melina, Claussnitzer, Ivy, Aneas, Marcelo A, Nóbrega

Publikováno v: Science

While coding variants often have pleiotropic effects across multiple tissues, non-coding variants are thought to mediate their phenotypic effects by specific tissue and temporal regulation of gene expression. Here, we dissected the genetic and functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0e80c9b4ee50503e33b9c6cc53346a60
https://pubmed.ncbi.nlm.nih.gov/34083488