Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.

Autor: Sun X; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Bulekova K; Research Computing Services, Boston University, Boston, MA 02215, USA., Yang J; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Lai M; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Pitsillides AN; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Liu X; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Zhang Y; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Yong Q; Longitudinal Studies Section, Translational Gerontology Branch, NIA/NIH, Baltimore, MD 21224, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Rich SS; Department of Public Health Services, Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA., Abecasis G; TOPMed Informatics Research Center, University of Michigan, Ann Arbor, MI 48109, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA., Vasan RS; Sections of Preventive Medicine and Epidemiology, and Cardiovascular Medicine, Boston University School of Medicine, Boston, MA, 02118, USA; Framingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA; Departments of Epidemiology, and Health Services, University of Washington, Seattle, WA 98101, USA., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Fitzpatrick AL; Departments of Family Medicine, Epidemiology, and Global Health, University of Washington, Seattle, WA 98195, USA., Satizabal CL; Framingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA., Arking DE; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, MD 21205, USA., Ding J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Levy D; Framingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Liu C; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA; Framingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA. Electronic address: liuc@bu.edu.

Publikováno v: Mitochondrion [Mitochondrion] 2024 Nov; Vol. 79, pp. 101954. Date of Electronic Publication: 2024 Sep 07.

The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.

Autor: Daca-Roszak P; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Fiedorowicz J; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; Department of Animal Physiology, Biochemistry and Biostructure, Poznan University of Life Science, Poznan, Poland., Jankowski M; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland., Ciesielka M; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland., Teresiński G; Chair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland., Lipska-Zietkiewicz B; Centre for Rare Diseases, Medical University of Gdansk, Gdansk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland., Zietkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Grzybowski T; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland., Skonieczna K; Department of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland. katarzyna.skonieczna@cm.umk.pl.

Publikováno v: Journal of applied genetics [J Appl Genet] 2024 Sep; Vol. 65 (3), pp. 559-563. Date of Electronic Publication: 2023 Dec 19.

High heteroplasmy is associated with low mitochondrial copy number and selection against non-synonymous mutations in the snail Cepaea nemoralis.

Autor: Davison A; School of Life Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK. angus.davison@nottingham.ac.uk., Chowdhury M; School of Life Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK., Johansen M; School of Life Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK., Uliano-Silva M; Tree of Life, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, Cambridgeshire, CB10 1SA, UK., Blaxter M; Tree of Life, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, Cambridgeshire, CB10 1SA, UK.

Publikováno v: BMC genomics [BMC Genomics] 2024 Jun 13; Vol. 25 (1), pp. 596. Date of Electronic Publication: 2024 Jun 13.

Single-cell analysis reveals context-dependent, cell-level selection of mtDNA.

Autor: Kotrys AV; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Durham TJ; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Guo XA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Vantaku VR; Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Parangi S; Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Cancer Center, Massachusetts General Hospital, Boston, MA, USA., Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. vamsi@hms.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. vamsi@hms.harvard.edu.

Publikováno v: Nature [Nature] 2024 May; Vol. 629 (8011), pp. 458-466. Date of Electronic Publication: 2024 Apr 24.

Evidence for hybridization-driven heteroplasmy maintained across generations in a ricefish endemic to a Wallacean ancient lake.

Autor: Nuryadi H; Tropical Biosphere Research Center, University of the Ryukyus, Okinawa, Japan., Mandagi IF; Faculty of Fisheries and Marine Science, Sam Ratulangi University, Manado, Indonesia., Masengi KWA; Faculty of Fisheries and Marine Science, Sam Ratulangi University, Manado, Indonesia., Kusumi J; Faculty of Social and Cultural Studies, Kyushu University, Fukuoka, Japan., Inomata N; Department of Environmental Science, Fukuoka Women's University, Fukuoka, Japan., Yamahira K; Tropical Biosphere Research Center, University of the Ryukyus, Okinawa, Japan.

Publikováno v: Biology letters [Biol Lett] 2024 Mar; Vol. 20 (3), pp. 20230385. Date of Electronic Publication: 2024 Mar 20.