Title |
The origins and functional effects of postzygotic mutations throughout the human life span
|
---|---|
Published in |
Science, April 2023
|
DOI | 10.1126/science.abn7113 |
Pubmed ID | |
Authors |
Nicole B Rockweiler, Avinash Ramu, Liina Nagirnaja, Wing H Wong, Michiel J Noordam, Casey W Drubin, Ni Huang, Brian Miller, Ellen Z Todres, Katinka A Vigh-Conrad, Antonino Zito, Kerrin S Small, Kristin G Ardlie, Barak A Cohen, Donald F Conrad |
Abstract |
Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health remain unclear. To study the origins and functional consequences of PZMs, we generated a multitissue atlas of PZMs spanning 54 tissue and cell types from 948 donors. Nearly half the variation in mutation burden among tissue samples can be explained by measured technical and biological effects, and 9% can be attributed to donor-specific effects. Through phylogenetic reconstruction of PZMs, we found that their type and predicted functional impact vary during prenatal development, across tissues, and through the germ cell life cycle. Thus, methods for interpreting effects across the body and the life span are needed to fully understand the consequences of genetic variants. |
X Demographics
As of 1 July 2024, you may notice a temporary increase in the numbers of X profiles with Unknown location. Click here to learn more.
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 12 | 13% |
China | 2 | 2% |
Indonesia | 1 | 1% |
France | 1 | 1% |
Belgium | 1 | 1% |
United Kingdom | 1 | 1% |
Unknown | 77 | 81% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 43 | 45% |
Scientists | 42 | 44% |
Practitioners (doctors, other healthcare professionals) | 6 | 6% |
Science communicators (journalists, bloggers, editors) | 4 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 66 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 14 | 21% |
Student > Ph. D. Student | 13 | 20% |
Student > Master | 6 | 9% |
Student > Bachelor | 4 | 6% |
Professor > Associate Professor | 4 | 6% |
Other | 9 | 14% |
Unknown | 16 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 28 | 42% |
Agricultural and Biological Sciences | 8 | 12% |
Medicine and Dentistry | 5 | 8% |
Computer Science | 2 | 3% |
Neuroscience | 2 | 3% |
Other | 2 | 3% |
Unknown | 19 | 29% |