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Nature Genetics

Subject Areas: Genetics
Publisher: Nature Publishing Group US - Springer Journals
ISSN: 1061-4036
SJR: 597

LitStream

Journal Article

Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism

Rege, Juilee; Bandulik, Sascha; Nanba, Kazutaka; Kosmann, Carla; Blinder, Amy R.; Plain, Allein; Vats, Pankaj; Kumar-Sinha, Chandan; Lerario, Antonio M.; Else, Tobias; Yamazaki, Yuto; Satoh, Fumitoshi; Sasano, Hironobu; Giordano, Thomas J.; Williams, Tracy Ann; Reincke, Martin; Turcu, Adina F.; Udager, Aaron M.; Warth, Richard; Rainey, William E.

2023 Nature Genetics

doi:10.1038/s41588-023-01498-5

Primary aldosteronism (PA) is the most common form of endocrine hypertension and is characterized by inappropriately elevated aldosterone production via a renin-independent mechanism. Driver somatic mutations for aldosterone excess have been found in approximately 90% of aldosterone-producing...
Open Access

Journal Article

APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer

McCann, Jennifer L.; Cristini, Agnese; Law, Emily K.; Lee, Seo Yun; Tellier, Michael; Carpenter, Michael A.; Beghè, Chiara; Kim, Jae Jin; Sanchez, Anthony; Jarvis, Matthew C.; Stefanovska, Bojana; Temiz, Nuri A.; Bergstrom, Erik N.; Salamango, Daniel J.; Brown, Margaret R.; Murphy, Shona; Alexandrov, Ludmil B.; Miller, Kyle M.; Gromak, Natalia; Harris, Reuben S.

2023 Nature Genetics

doi:10.1038/s41588-023-01504-w

The single-stranded DNA cytosine-to-uracil deaminase APOBEC3B is an antiviral protein implicated in cancer. However, its substrates in cells are not fully delineated. Here APOBEC3B proteomics reveal interactions with a surprising number of R-loop factors. Biochemical experiments show APOBEC3B...
LitStream

Journal Article

Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease

Chen, Yanhua; Du, Xiaomeng; Kuppa, Annapurna; Feitosa, Mary F.; Bielak, Lawrence F.; O’Connell, Jeffrey R.; Musani, Solomon K.; Guo, Xiuqing; Kahali, Bratati; Chen, Vincent L.; Smith, Albert V.; Ryan, Kathleen A.; Eirksdottir, Gudny; Allison, Matthew A.; Bowden, Donald W.; Budoff, Matthew J.; Carr, John Jeffrey; Chen, Yii-Der I.; Taylor, Kent D.; Oliveri, Antonino; Correa, Adolfo; Crudup, Breland F.; Kardia, Sharon L. R.; Mosley, Thomas H.; Norris, Jill M.; Terry, James G.; Rotter, Jerome I.; Wagenknecht, Lynne E.; Halligan, Brian D.; Young, Kendra A.; Hokanson, John E.; Washko, George R.; Gudnason, Vilmundur; Province, Michael A.; Peyser, Patricia A.; Palmer, Nicholette D.; Speliotes, Elizabeth K.

2023 Nature Genetics

doi:10.1038/s41588-023-01497-6

Nonalcoholic fatty liver disease (NAFLD) is common and partially heritable and has no effective treatments. We carried out a genome-wide association study (GWAS) meta-analysis of imaging (n = 66,814) and diagnostic code (3,584 cases versus 621,081 controls) measured NAFLD across diverse...
Open Access

Journal Article

Structure and function of rice hybrid genomes reveal genetic basis and optimal performance of heterosis

Gu, Zhoulin; Gong, Junyi; Zhu, Zhou; Li, Zhen; Feng, Qi; Wang, Changsheng; Zhao, Yan; Zhan, Qilin; Zhou, Congcong; Wang, Ahong; Huang, Tao; Zhang, Lei; Tian, Qilin; Fan, Danlin; Lu, Yiqi; Zhao, Qiang; Huang, Xuehui; Yang, Shihua; Han, Bin

2023 Nature Genetics

doi:10.1038/s41588-023-01495-8 pmid:37679493

Exploitation of crop heterosis is crucial for increasing global agriculture production. However, the quantitative genomic analysis of heterosis was lacking, and there is currently no effective prediction tool to optimize cross-combinations. Here 2,839 rice hybrid cultivars and 9,839 segregation...
LitStream

Journal Article

Quantifying fitness effects and mutation rates of mCAs in blood

2023 Nature Genetics

doi:10.1038/s41588-023-01491-y pmid:37697103

Using data from the UK Biobank, we reveal the roles of selection and mutation in shaping the genetic diversity of mosaic chromosomal alterations in healthy blood.
LitStream

Journal Article

Functional characterization of Alzheimer’s disease genetic variants in microglia

Yang, Xiaoyu; Wen, Jia; Yang, Han; Jones, Ian R.; Zhu, Xiaodong; Liu, Weifang; Li, Bingkun; Clelland, Claire D.; Luo, Wenjie; Wong, Man Ying; Ren, Xingjie; Cui, Xiekui; Song, Michael; Liu, Hongjiang; Chen, Cady; Eng, Nicolas; Ravichandran, Mirunalini; Sun, Yang; Lee, David; Van Buren, Eric; Jiang, Min-Zhi; Chan, Candace S. Y.; Ye, Chun Jimmie; Perera, Rushika M.; Gan, Li; Li, Yun; Shen, Yin

2023 Nature Genetics

doi:10.1038/s41588-023-01506-8

Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial enrichment for Alzheimer’s disease (AD) heritability compared to other brain cell types. However, whether and how these genome-wide association studies (GWAS) variants contribute to AD remain elusive. Here we...
LitStream

Journal Article

Rice heterosis: quantitatively characterized and optimized hybrid breeding

2023 Nature Genetics

doi:10.1038/s41588-023-01496-7

We re-sequenced and phenotyped 2,839 rice hybrid cultivars and 9,839 F2 individuals from elite hybrids. Based on the dataset, the genetic improvement during rice hybrid breeding was investigated, and the genetic basis underlying strong heterosis was quantitatively evaluated. Furthermore, a...
Open Access

Journal Article

Author Correction: Multiparameter prediction of myeloid neoplasia risk

Gu, Muxin; Kovilakam, Sruthi Cheloor; Dunn, William G.; Marando, Ludovica; Barcena, Clea; Mohorianu, Irina; Smith, Alexandra; Kar, Siddhartha P.; Fabre, Margarete A.; Gerstung, Moritz; Cargo, Catherine A.; Malcovati, Luca; Quiros, Pedro M.; Vassiliou, George S.

2023 Nature Genetics

doi:10.1038/s41588-023-01532-6
Open Access

Journal Article

Mutation rates and fitness consequences of mosaic chromosomal alterations in blood

Watson, Caroline J.; Blundell, Jamie R.

2023 Nature Genetics

doi:10.1038/s41588-023-01490-z pmid:37697102

Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades before diagnosis. A quantitative understanding of the rate at which these events occur, and their functional consequences, could improve cancer risk prediction and our understanding of somatic evolution. Using mCA...
LitStream

Journal Article

Molecular basis for maternal inheritance of human mitochondrial DNA

Lee, William; Zamudio-Ochoa, Angelica; Buchel, Gina; Podlesniy, Petar; Marti Gutierrez, Nuria; Puigròs, Margalida; Calderon, Anna; Tang, Hsin-Yao; Li, Li; Mikhalchenko, Aleksei; Koski, Amy; Trullas, Ramon; Mitalipov, Shoukhrat; Temiakov, Dmitry

2023 Nature Genetics

doi:10.1038/s41588-023-01505-9

Uniparental inheritance of mitochondrial DNA (mtDNA) is an evolutionary trait found in nearly all eukaryotes. In many species, including humans, the sperm mitochondria are introduced to the oocyte during fertilization1,2. The mechanisms hypothesized to prevent paternal mtDNA transmission include...

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