한빛사논문
Yeongjun Jang 1, Livia Tomasini 2, Taejeong Bae 1, Anna Szekely3, Flora M. Vaccarino 2,4,5 & Alexej Abyzov 1
1Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
2Child Study Center, Yale University, New Haven, CT, USA.
3Department of Neurology, Yale University, New Haven, CT, USA.
4Department of Neuroscience, Yale University, New Haven, CT, USA.
5Yale Kavli Institute for Neuroscience, New Haven, CT, USA.
Corresponding authors
Correspondence to Flora M. Vaccarino or Alexej Abyzov.
Abstract
Little is known about the origin of germ cells in humans. We previously leveraged post-zygotic mutations to reconstruct zygote-rooted cell lineage ancestry trees in a phenotypically normal woman, termed NC0. Here, by sequencing the genome of her children and their father, we analyze the transmission of early pre-gastrulation lineages and corresponding mutations across human generations. We find that the germline in NC0 is polyclonal and is founded by at least two cells likely descending from the two blastomeres arising from the first zygotic cleavage. Analyzes of public data from several multi-children families and from 1934 familial quads confirm this finding in larger cohorts, revealing that known imbalances of up to 90:10 in early lineages allocation in somatic tissues are not reflected in mutation transmission to offspring, establishing a fundamental difference in lineage allocation between the soma and the germline. Analyzes of all the data consistently suggest that the germline has a balanced 50:50 lineage allocation from the first two blastomeres.
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