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Nicole J Lake on Muck Rack

Nicole J Lake

As seen in: Nature, YaleNews, Genome Medicine, BioRxiv, Cell Press, medRxiv, Genome Research, Texas Medical Center
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Articles

A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA

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By Lianting Fu, Jieyi Chen, Da Lian, Siyuan Du, Dongya Wu, Chentao Yang, Ziyi WANG, Hongyi Ma, Zhengtong Li, Nicole J Lake, Xiangyu Yang, Yongyong Shi, Guojie Zhang, Kaiyue Ma, Yafei Mao
| Nature Verified
Abstract Nuclear-embedded mitochondrial DNA segments (NUMT) preserve a record of ongoing mitochondrial-to-nuclear DNA transfer during evolution, with important implications for disease mechanisms and genome organization. Here, we develop a pangenome graph-based NUMT detection approach, achieving a 2.52-fold improvement in sensitivity and generating a high-resolution human NUMT map comprising 774 fixed and 280 polymorphic events, alongside 74 superpopulation-stratified loci.
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Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia - Nature Communications

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By Sergiu Pasca, Yun Hong, Daniela Puiu, Nicole J Lake, Monkol Lek, Eliseo Guallar, Dan E. Arking, Lukasz P. Gondek
| Nature Verified
Abstract Chronic lymphocytic leukemia (CLL) can arise from lymphoid clonal hematopoiesis of indeterminate potential (L-CHIP), but many individuals who develop CLL lack detectable L-CHIP prior to diagnosis. To identify additional predictors of CLL risk, we analyze mitochondrial heteroplasmy in 419,154 individuals from the UK Biobank (UKB).
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Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy - Nature Communications

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By Meng Lai, Yinan Zheng, Christina A. Castellani, Mengyao Wang, Xue Liu, Tianxiao Huan, Kwadwo O. Bonsu, Wei Zhao, Roby Joehanes, Xiuqing Guo, JoAnn E. Manson, Joann Manson, Megan L. Grove, Jan Bressler, Tuuli Lappalainen, Nicole J Lake, Kendra R. Ferrier, Stephen Ekker, Charles Kooperberg, Patricia A. Peyser, Myriam Fornage, Laura M. Raffield, April P. Carson, Stephen S. Rich, Jerome I. Rotter, Jennifer Smith, Dan E. Arking, Chunyu Liu, NHLBI Trans-Omics, Kyler McKessy
| Nature Verified
Abstract We analyze 10,986 participants (mean age 77; 63% women; 54% non-White) across seven U.S. cohorts to study the relationship between mitochondrial DNA (mtDNA) heteroplasmy and nuclear DNA methylation. We identify 597 CpGs associated with heteroplasmy burden, generally showing lower methylation. These CpGs are enriched in dynamically regulated island shores and depleted in CpG islands, indicating involvement in context-specific rather than constitutive gene regulation.
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