Landmarks of human embryonic development inscribed in somatic mutations

Author:

Bizzotto Sara123ORCID,Dou Yanmei4,Ganz Javier123ORCID,Doan Ryan N.1ORCID,Kwon Minseok4ORCID,Bohrson Craig L.4ORCID,Kim Sonia N.1235ORCID,Bae Taejeong6ORCID,Abyzov Alexej6ORCID,Park Peter J.47ORCID,Walsh Christopher A.123ORCID,

Affiliation:

1. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA 02115, USA.

2. Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.

3. Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

4. Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.

5. PhD Program in Biological and Biomedical Sciences, Harvard University, Boston, MA 02115, USA.

6. Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.

7. Division of Genetics, Brigham and Women’s Hospital, Boston, MA 02115, USA.

Abstract

Mutations provide an enduring record Somatic mutations pepper our cells with change, but because they are not in the germline, they do not propagate to the next generation. Bizzotto et al. leveraged data on the distribution of somatic mutations in adults to take a backward look at the earliest moments of human development. Calculation of cellular lineages on the basis of shared somatic mutations shows the number of cells from which the body will develop when the human embryo gastrulates. The lineage for forebrain cells is identifiable, as are the asymmetrical fates spun out of many of the gastrula cells. Science , this issue p. 1249

Funder

Howard Hughes Medical Institute

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

Paul G. Allen Family Foundation

American Brain Tumor Association

Brain SPORE

Manton Center for Orphan Disease Research, Boston Children’s Hospital

Harvard Medical School

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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