Scholarlink

<p>From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues Network, which aims to create a reference catalogue of somatic mutations and their clonal patterns across 19 different tissue sites from 150 non-diseased donors and develop new technologies and computational tools to detect somatic mutations and assess their phenotypic consequences, including clonal expansions. This strategy enables a comprehensive examination of the mutational landscape across the human body, and provides a comparison baseline for somatic mutation in diseases. This will lead to a deep understanding of somatic mutations and clonal expansions across the lifespan, as well as their roles in health, in&#xa0;ageing and, by comparison, in diseases.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

The Somatic Mosaicism across Human Tissues Network

  • 期刊论文

  • 发表日期：

    2025年7月2日

查看全文
  • Tim H. H. Coorens,
  • Ji Won Oh,
  • Yujin Angelina Choi,
  • Nam Seop Lim,
  • Boxun Zhao,
  • Adam Voshall,
  • Alexej Abyzov,
  • Lucinda Antonacci-Fulton,
  • Samuel Aparicio,
  • Kristin G. Ardlie,
  • Thomas J. Bell,
  • James T. Bennett,
  • Bradley E. Bernstein,
  • Thomas G. Blanchard,
  • Alan P. Boyle,
  • Jason D. Buenrostro,
  • Kathleen H. Burns,
  • Fei Chen,
  • Rui Chen,
  • Sangita Choudhury,
  • Harsha V. Doddapaneni,
  • Evan E. Eichler,
  • Gilad D. Evrony,
  • Melissa A. Faith,
  • Thomas G. Fazzio,
  • Robert S. Fulton,
  • Manuel Garber,
  • Nils Gehlenborg,
  • Soren Germer,
  • Gad Getz,
  • Richard A. Gibbs,
  • Raquel G. Hernandez,
  • Fulai Jin,
  • Jan O. Korbel,
  • Dan A. Landau,
  • Heather A. Lawson,
  • Niall J. Lennon,
  • Heng Li,
  • Yan Li,
  • Po-Ru Loh,
  • Gabor Marth,
  • Michael J. McConnell,
  • Ryan E. Mills,
  • Stephen B. Montgomery,
  • Pradeep Natarajan,
  • Peter J. Park,
  • Rahul Satija,
  • Fritz J. Sedlazeck,
  • Diane D. Shao,
  • Hui Shen,
  • Andrew B. Stergachis,
  • Hunter R. Underhill,
  • Alexander E. Urban,
  • Melissa W. VonDran,
  • Christopher A. Walsh,
  • Ting Wang,
  • Tao P. Wu,
  • Chenghang Zong,
  • Eunjung Alice Lee,
  • Flora M. Vaccarino,
  • Richard S. Conroy,
  • Brionna Y. Hair,
  • Walter J. Koroshetz,
  • Roger Little,
  • Amy C. Lossie,
  • Jill A. Morris,
  • Dena C. Procaccini,
  • Wendy Wang,
  • Casey Andrews,
  • Sarah Cody,
  • Milinn Kremitzki,
  • Daofeng Li,
  • Tina Lindsay,
  • Wenjin Zhang,
  • Valerie J. Estela-Pro,
  • Kayla Giancarlo,
  • Melissa Grimm,
  • Azra Hasan,
  • M. Kathryn Leonard,
  • Phoebe McDermott,
  • Mary Pfeiffer,
  • Isabel Sleeman,
  • Stephanie Bohaczuk,
  • Colleen P. Davis,
  • Christian D. Frazar,
  • Kendra Hoekzema,
  • Meng-Fan Huang,
  • Caitlin Jacques,
  • Dana M. Jensen,
  • J. Thomas Kolar,
  • Youngjun Kwon,
  • Kelsey Loy,
  • Yizi Mao,
  • Min-Hwan Sohn,
  • Katherine M. Munson,
  • Shane Neph,
  • Jeffrey Ou,
  • Nancy L. Parmalee,
  • Meranda M. Pham,
  • Jane Ranchalis,
  • Luyao Ren,
  • Adriana E. Sedeño-Cortés,
  • Joshua D. Smith,
  • Melanie Sorensen,
  • Lila Sutherlin,
  • Mitchell R. Vollger,
  • Chia-Lin Wei,
  • Jeffrey M. Weiss,
  • Christina Zakarian,
  • Natalie Y. T. Au,
  • Amy Leonardson,
  • Jiadong Lin,
  • Taralynn Mack,
  • Sean R. McGee,
  • Anna Minkina,
  • Patrick M. Nielsen,
  • Chris Oliveira,
  • Erica Ryke,
  • Tristan Shaffer,
  • Elliott G. Swanson,
  • Elizabeth G. Atkinson,
  • Sravya Bhamidipati,
  • Hsu Chao,
  • Christopher M. Grochowski,
  • Harsha V. Doddapaneni,
  • Divya Kalra,
  • Ziad Khan,
  • Kavya Kottapalli,
  • Marie-Claude Gingras,
  • Walker Hale,
  • Heer Mehta,
  • Donna M. Muzny,
  • Muchun Niu,
  • Luis F. Paulin,
  • Jeffrey Rogers,
  • Evette Scott,
  • Fritz J. Sedlazeck,
  • Kimberly Walker,
  • Tao Wu,
  • Kristin G. Ardlie,
  • Viktor Adalsteinsson,
  • Lisa Anderson,
  • Carrie Cibulskis,
  • Laura Domènech,
  • Kiran Garimella,
  • Whitney Hornsby,
  • Steve Huang,
  • Satoshi Koyama,
  • Niall J. Lennon,
  • Tetsushi Nakao,
  • Azeet Narayan,
  • Evin Padhi,
  • Constantijn Scharlee,
  • Md Mesbah Uddin,
  • Liying Xue,
  • Zhi Yu,
  • Shadi Zaheri,
  • Ruolin Liu,
  • Ning Stella Li,
  • Hang Su,
  • Derek Albracht,
  • Eddie Belter,
  • Emma Casey,
  • Justin Chen,
  • Yuchen Cheng,
  • Shihua Dong,
  • Qichen Fu,
  • Robert Fulton,
  • John Garza,
  • H. Josh Jang,
  • Sheng Chih Jin,
  • Benjamin K. Johnson,
  • Nahyun Kong,
  • Daofeng Li,
  • Zefan Li,
  • Shane Liu,
  • Juan F. Macias-Velasco,
  • Elvisa Mehinovic,
  • Benpeng Miao,
  • Theron Palmer,
  • Purva Patel,
  • Mary F. Majewski,
  • Daniel C. Rohrer,
  • Andrew Ruttenberg,
  • Ayush Semwal,
  • Jiawei Shen,
  • Zitian Tang,
  • Chad Tomlinson,
  • Wenjin Zhang,
  • Zilan Xin,
  • Christina Missler,
  • Brianne E. Livermore,
  • Jade E. B. Carter,
  • William Driscoll,
  • Uday S. Evani,
  • Heather Geiger,
  • M. Tausif Hasan,
  • Manisha Kher,
  • Rajeeva Musunuri,
  • Giuseppe Narzisi,
  • Nicolas Robine,
  • Alexi Runnels,
  • Mingyun Bae,
  • Michele Berselli,
  • Ann Caplin,
  • Hye-Jung Elizabeth Chun,
  • Niklas L. Engel,
  • William C. Feng,
  • Yan Gao,
  • Dominik Glodzik,
  • Yoo-Jin Jiny Ha,
  • Hu Jin,
  • Sehi L’Yi,
  • Lovelace J. Luquette,
  • Maximilian Marin,
  • Julia Markowski,
  • Dominika Maziec,
  • Huang Neng,
  • Sarah Nicholson,
  • Junseok Park,
  • Qin Qian,
  • Han Qu,
  • Douglas Rioux,
  • William Ronchetti,
  • Andrew Schroeder,
  • Corinne E. Sexton,
  • Yichen Si,
  • Kar-Tong Tan,
  • David Tang,
  • Alexander D. Veit,
  • Vinayak V. Viswanadham,
  • Suenghyun Wang,
  • Kyung Ah Woo,
  • Xi Zeng,
  • Yuwei Zhang,
  • Yifan Zhao,
  • Ying Zhou,
  • Michail Andreopoulos,
  • Shannon Ehmsen,
  • Cesar Ferreyra-Mansilla,
  • Clara TaeHee Kim,
  • David Michaels,
  • Bianca Morris,
  • Brandt A. Bessell,
  • Ingrid Flashpohler,
  • Steve Losh,
  • Torrin L. McDonald,
  • Camille Mumm,
  • Jessica A. Switzenberg,
  • Jinhao Wang,
  • Weichen Zhou,
  • Guanlan Dong,
  • Nazia Hilal,
  • Se-Young Jo,
  • Shayna L. Mallett,
  • Monica Devi Manam,
  • Shulin Mao,
  • Christopher Walsh,
  • Sijing Zhao,
  • Yiling Elaine Huang,
  • Abhiram Natu,
  • Reenal Pattni,
  • Carolin Purman,
  • Bo Zhou,
  • Xiaowei Zhu,
  • Jiayi Luo,
  • Yichi Niu,
  • Rohan Thakur,
  • David A. Weitz,
  • Yang Zhang,
  • Yilei Fu,
  • Michal B. Izydorczyk,
  • Luis F. Paulin,
  • Xiaomei Zhan,
  • Xinchang Zheng,
  • Geon Hue Bae,
  • Taejeong Bae,
  • Areum Cho,
  • June Hyug Choi,
  • Hyungbin Chun,
  • Mrunal Dehankar,
  • Yeongjun Jang,
  • Seok-Won Jeong,
  • Min Ji,
  • Mee Sook Jun,
  • Su Rim Kim,
  • Seong Gyu Kwon,
  • Soung-Hoon Lee,
  • Nanda Maya Mali,
  • Arijit Panda,
  • Jung Min Park,
  • JaeEun Shin,
  • Milovan Suvakov,
  • Gabor T. Marth,
  • Brad Demarest,
  • Stephanie Gardiner,
  • Stephanie J. Georges,
  • Yingqi Zhang,
  • Sammantha Avaylon,
  • Alexandre Pellan Cheng,
  • Wei-Yu Chi,
  • Mariela Cortés-López,
  • Andrew R. D’Avino,
  • Husain Danish,
  • Elliot Eton,
  • Foteini Fotopoulo,
  • Saravanan Ganesan,
  • Yiyun Lin,
  • Qing Luo,
  • Levan Mekerishvili,
  • Joe Pelt,
  • Catherine Potenski,
  • Tamara Prieto,
  • Jake Qiu,
  • Ivan Raimondi,
  • Mandeep Singh,
  • Dennis Yuan,
  • John Zinno,
  • Benjamin Costa,
  • Jonathan Evan Shoag,
  • Jimin Tan,
  • Aristotelis Tsirigos,
  • Nisrine T. Jabara,
  • Marta Grońska-Pęski,
  • Emre Caglayan,
  • Hayley Cline,
  • Niklas L. Engel,
  • Shelbi E. Gill,
  • Robert Sean Hill,
  • Andrea J. Kriz,
  • Julia Markowski,
  • Alisa Mo,
  • Daniel Snellings,
  • Justin S. Becker,
  • Aidan H. Burn,
  • Wen-Chih Cheng,
  • Jennifer A. Karlow,
  • Cheuk-Ting Law,
  • Shayna L. Mallet,
  • Carlos Mendez-Dorantes,
  • Khue H. Nguyen,
  • Adam Voshall,
  • Boxun Zhao,
  • Benno Orr,
  • Andrew J. C. Russell,
  • He Li,
  • Yan Li,
  • Leina Lu,
  • Xiaofeng Zhu,
  • Trishita Basak,
  • Azita Ghodssi,
  • Katrina Newcomer,
  • Yuqing Wang

摘要

From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues Network, which aims to create a reference catalogue of somatic mutations and their clonal patterns across 19 different tissue sites from 150 non-diseased donors and develop new technologies and computational tools to detect somatic mutations and assess their phenotypic consequences, including clonal expansions. This strategy enables a comprehensive examination of the mutational landscape across the human body, and provides a comparison baseline for somatic mutation in diseases. This will lead to a deep understanding of somatic mutations and clonal expansions across the lifespan, as well as their roles in health, in ageing and, by comparison, in diseases.