Ancestry-inspired genomic health
Nature Genetics 49, 1287 (2017).
doi:10.1038/ng.3953
A solution to screening for recessive heritable disorders and identifying genetic influences on common diseases is to be found in the history of one of the world's most populous regions. Large South Asian populations are a mosaic of smaller populations, many of which have founder effects as extreme as those in the European isolates that first inspired genetic medicine. (Source: Nature Genetics)
Source: Nature Genetics - August 30, 2017 Category: Genetics & Stem Cells Tags: Editorial Source Type: research
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)
Nature Genetics 49, 1539 (2017).
doi:10.1038/ng.3939
Authors: Anja J Will, Giulia Cova, Marco Osterwalder, Wing-Lee Chan, Lars Wittler, Norbert Brieske, Verena Heinrich, Jean-Pierre de Villartay, Martin Vingron, Eva Klopocki, Axel Visel, Darío G Lupiáñez & Stefan Mundlos
Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosynostosis and s...
Source: Nature Genetics - August 28, 2017 Category: Genetics & Stem Cells Authors: Anja J Will Giulia Cova Marco Osterwalder Wing-Lee Chan Lars Wittler Norbert Brieske Verena Heinrich Jean-Pierre de Villartay Martin Vingron Eva Klopocki Axel Visel Dar í o G Lupi á ñ ez Stefan Mundlos Tags: Letter Source Type: research
LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo
Nature Genetics 49, 1502 (2017).
doi:10.1038/ng.3945
Authors: Joanna W Jachowicz, Xinyang Bing, Julien Pontabry, Ana Bošković, Oliver J Rando & Maria-Elena Torres-Padilla (Source: Nature Genetics)
Source: Nature Genetics - August 28, 2017 Category: Genetics & Stem Cells Authors: Joanna W Jachowicz Xinyang Bing Julien Pontabry Ana Bo š kovi ć Oliver J Rando Maria-Elena Torres-Padilla Tags: Article Source Type: research
Condensin-mediated remodeling of the mitotic chromatin landscape in fission yeast
Nature Genetics 49, 1553 (2017).
doi:10.1038/ng.3938
Authors: Yasutaka Kakui, Adam Rabinowitz, David J Barry & Frank Uhlmann
The eukaryotic genome consists of DNA molecules far longer than the cells that contain them. They reach their greatest compaction during chromosome condensation in mitosis. This process is aided by condensin, a structural maintenance of chromosomes (SMC) family member. The spatial organization of mitotic chromosomes and how condensin shapes chromatin architecture are not yet fully understood. Here we use chromosome conformation capture (Hi-C) to study mitotic chromosome condensation in th...
Source: Nature Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Yasutaka Kakui Adam Rabinowitz David J Barry Frank Uhlmann Tags: Letter Source Type: research
Cis and trans determinants of epigenetic silencing by Polycomb repressive complex 2 in Arabidopsis
Nature Genetics 49, 1546 (2017).
doi:10.1038/ng.3937
Authors: Jun Xiao, Run Jin, Xiang Yu, Max Shen, John D Wagner, Armaan Pai, Claire Song, Michael Zhuang, Samantha Klasfeld, Chongsheng He, Alexandre M Santos, Chris Helliwell, Jose L Pruneda-Paz, Steve A Kay, Xiaowei Lin, Sujuan Cui, Meilin Fernandez Garcia, Oliver Clarenz, Justin Goodrich, Xiaoyu Zhang, Ryan S Austin, Roberto Bonasio & Doris Wagner
Disruption of gene silencing by Polycomb protein complexes leads to homeotic transformations and altered developmental-phase identity in plants. Here we define short genomic fragments, known as Polycomb response el...
Source: Nature Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Jun Xiao Run Jin Xiang Yu Max Shen John D Wagner Armaan Pai Claire Song Michael Zhuang Samantha Klasfeld Chongsheng He Alexandre M Santos Chris Helliwell Jose L Pruneda-Paz Steve A Kay Xiaowei Lin Sujuan Cui Meilin Fernandez Garcia Oliver Clarenz Justin G Tags: Letter Source Type: research
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
Nature Genetics 49, 1487 (2017).
doi:10.1038/ng.3940
Authors: Samantha Gadd, Vicki Huff, Amy L Walz, Ariadne H A G Ooms, Amy E Armstrong, Daniela S Gerhard, Malcolm A Smith, Jaime M Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Leandro C Hermida, Tanja Davidsen, Patee Gesuwan, Yussanne Ma, Zusheng Zong, Andrew J Mungall, Richard A Moore, Marco A Marra, Jeffrey S Dome, Charles G Mullighan, Jing Ma, David A Wheeler, Oliver A Hampton, Nicole Ross, Julie M Gastier-Foster, Stefan T Arold & Elizabeth J Perlman (Source: Nature Genetics)
Source: Nature Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Samantha Gadd Vicki Huff Amy L Walz Ariadne H A G Ooms Amy E Armstrong Daniela S Gerhard Malcolm A Smith Jaime M Guidry Auvil Daoud Meerzaman Qing-Rong Chen Chih Hao Hsu Chunhua Yan Cu Nguyen Ying Hu Leandro C Hermida Tanja Davidsen Patee Gesuwan Yussanne Tags: Article Source Type: research
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer
Nature Genetics 49, 1476 (2017).
doi:10.1038/ng.3934
Authors: Paz Polak, Jaegil Kim, Lior Z Braunstein, Rosa Karlic, Nicholas J Haradhavala, Grace Tiao, Daniel Rosebrock, Dimitri Livitz, Kirsten Kübler, Kent W Mouw, Atanas Kamburov, Yosef E Maruvka, Ignaty Leshchiner, Eric S Lander, Todd R Golub, Aviad Zick, Alexandre Orthwein, Michael S Lawrence, Rajbir N Batra, Carlos Caldas, Daniel A Haber, Peter W Laird, Hui Shen, Leif W Ellisen, Alan D D'Andrea, Stephen J Chanock, William D Foulkes & Gad Getz (Source: Nature Genetics)
Source: Nature Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Paz Polak Jaegil Kim Lior Z Braunstein Rosa Karlic Nicholas J Haradhavala Grace Tiao Daniel Rosebrock Dimitri Livitz Kirsten K ü bler Kent W Mouw Atanas Kamburov Yosef E Maruvka Ignaty Leshchiner Eric S Lander Todd R Golub Aviad Zick Alexandre Orthwein M Tags: Article Source Type: research
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Nature Genetics 49, 1529 (2017).
doi:10.1038/ng.3933
Authors: Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Herml...
Source: Nature Genetics - August 14, 2017 Category: Genetics & Stem Cells Authors: Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte Tags: Letter Source Type: research
Lineage-specific dynamic and pre-established enhancer – promoter contacts cooperate in terminal differentiation
Nature Genetics 49, 1522 (2017).
doi:10.1038/ng.3935
Authors: Adam J Rubin, Brook C Barajas, Mayra Furlan-Magaril, Vanessa Lopez-Pajares, Maxwell R Mumbach, Imani Howard, Daniel S Kim, Lisa D Boxer, Jonathan Cairns, Mikhail Spivakov, Steven W Wingett, Minyi Shi, Zhixin Zhao, William J Greenleaf, Anshul Kundaje, Michael Snyder, Howard Y Chang, Peter Fraser & Paul A Khavari
Chromosome conformation is an important feature of metazoan gene regulation; however, enhancer–promoter contact remodeling during cellular differentiation remains poorly understood. To address this, genome-wide promoter capture Hi-C (CHi...
Source: Nature Genetics - August 14, 2017 Category: Genetics & Stem Cells Authors: Adam J Rubin Brook C Barajas Mayra Furlan-Magaril Vanessa Lopez-Pajares Maxwell R Mumbach Imani Howard Daniel S Kim Lisa D Boxer Jonathan Cairns Mikhail Spivakov Steven W Wingett Minyi Shi Zhixin Zhao William J Greenleaf Anshul Kundaje Michael Snyder Howa Tags: Letter Source Type: research
Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease
Nature Genetics 49, 1517 (2017).
doi:10.1038/ng.3936
Authors: Urko M Marigorta, Lee A Denson, Jeffrey S Hyams, Kajari Mondal, Jarod Prince, Thomas D Walters, Anne Griffiths, Joshua D Noe, Wallace V Crandall, Joel R Rosh, David R Mack, Richard Kellermayer, Melvin B Heyman, Susan S Baker, Michael C Stephens, Robert N Baldassano, James F Markowitz, Mi-Ok Kim, Marla C Dubinsky, Judy Cho, Bruce J Aronow, Subra Kugathasan & Greg Gibson
Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hi...
Source: Nature Genetics - August 14, 2017 Category: Genetics & Stem Cells Authors: Urko M Marigorta Lee A Denson Jeffrey S Hyams Kajari Mondal Jarod Prince Thomas D Walters Anne Griffiths Joshua D Noe Wallace V Crandall Joel R Rosh David R Mack Richard Kellermayer Melvin B Heyman Susan S Baker Michael C Stephens Robert N Baldassano Jame Tags: Letter Source Type: research
Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability
Nature Genetics 49, 1398 (2017).
doi:10.1038/ng.3928
Authors: Erna V Ivarsdottir, Valgerdur Steinthorsdottir, Maryam S Daneshpour, Gudmar Thorleifsson, Patrick Sulem, Hilma Holm, Snaevar Sigurdsson, Astradur B Hreidarsson, Gunnar Sigurdsson, Ragnar Bjarnason, Arni V Thorsson, Rafn Benediktsson, Gudmundur Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Sirous Zeinali, Fereidoun Azizi, Unnur Thorsteinsdottir, Daniel F Gudbjartsson & Kari Stefansson
Sequence variants that affect mean fasting glucose levels do not necessarily affect risk for type 2 diabetes (T2D). We assessed the effects of 36 reported glucose-...
Source: Nature Genetics - August 7, 2017 Category: Genetics & Stem Cells Authors: Erna V Ivarsdottir Valgerdur Steinthorsdottir Maryam S Daneshpour Gudmar Thorleifsson Patrick Sulem Hilma Holm Snaevar Sigurdsson Astradur B Hreidarsson Gunnar Sigurdsson Ragnar Bjarnason Arni V Thorsson Rafn Benediktsson Gudmundur Eyjolfsson Olof Sigurda Tags: Letter Source Type: research
Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration
Nature Genetics 49, 1346 (2017).
doi:10.1038/ng.3929
Authors: Michaela Patterson, Lindsey Barske, Ben Van Handel, Christoph D Rau, Peiheng Gan, Avneesh Sharma, Shan Parikh, Matt Denholtz, Ying Huang, Yukiko Yamaguchi, Hua Shen, Hooman Allayee, J Gage Crump, Thomas I Force, Ching-Ling Lien, Takako Makita, Aldons J Lusis, S Ram Kumar & Henry M Sucov (Source: Nature Genetics)
Source: Nature Genetics - August 7, 2017 Category: Genetics & Stem Cells Authors: Michaela Patterson Lindsey Barske Ben Van Handel Christoph D Rau Peiheng Gan Avneesh Sharma Shan Parikh Matt Denholtz Ying Huang Yukiko Yamaguchi Hua Shen Hooman Allayee J Gage Crump Thomas I Force Ching-Ling Lien Takako Makita Aldons J Lusis S Ram Kumar Tags: Article Source Type: research
TMPRSS2 – ERG fusion co-opts master transcription factors and activates NOTCH signaling in primary prostate cancer
Nature Genetics 49, 1336 (2017).
doi:10.1038/ng.3930
Authors: Ken J Kron, Alexander Murison, Stanley Zhou, Vincent Huang, Takafumi N Yamaguchi, Yu-Jia Shiah, Michael Fraser, Theodorus van der Kwast, Paul C Boutros, Robert G Bristow & Mathieu Lupien (Source: Nature Genetics)
Source: Nature Genetics - August 7, 2017 Category: Genetics & Stem Cells Authors: Ken J Kron Alexander Murison Stanley Zhou Vincent Huang Takafumi N Yamaguchi Yu-Jia Shiah Michael Fraser Theodorus van der Kwast Paul C Boutros Robert G Bristow Mathieu Lupien Tags: Article Source Type: research
Classification of common human diseases derived from shared genetic and environmental determinants
Nature Genetics 49, 1319 (2017).
doi:10.1038/ng.3931
Authors: Kanix Wang, Hallie Gaitsch, Hoifung Poon, Nancy J Cox & Andrey Rzhetsky (Source: Nature Genetics)
Source: Nature Genetics - August 7, 2017 Category: Genetics & Stem Cells Authors: Kanix Wang Hallie Gaitsch Hoifung Poon Nancy J Cox Andrey Rzhetsky Tags: Analysis Source Type: research
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF
Nature Genetics 49, 1326 (2017).
doi:10.1038/ng.3927
Authors: Jiyeon Choi, Mai Xu, Matthew M Makowski, Tongwu Zhang, Matthew H Law, Michael A Kovacs, Anton Granzhan, Wendy J Kim, Hemang Parikh, Michael Gartside, Jeffrey M Trent, Marie-Paule Teulade-Fichou, Mark M Iles, Julia A Newton-Bishop, D Timothy Bishop, Stuart MacGregor, Nicholas K Hayward, Michiel Vermeulen & Kevin M Brown (Source: Nature Genetics)
Source: Nature Genetics - July 31, 2017 Category: Genetics & Stem Cells Authors: Jiyeon Choi Mai Xu Matthew M Makowski Tongwu Zhang Matthew H Law Michael A Kovacs Anton Granzhan Wendy J Kim Hemang Parikh Michael Gartside Jeffrey M Trent Marie-Paule Teulade-Fichou Mark M Iles Julia A Newton-Bishop D Timothy Bishop Stuart MacGregor Nich Tags: Article Source Type: research
