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Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline

Author

Listed:
  • Yeongjun Jang

    (Mayo Clinic)

  • Livia Tomasini

    (Yale University)

  • Taejeong Bae

    (Mayo Clinic)

  • Anna Szekely

    (Yale University)

  • Flora M. Vaccarino

    (Yale University
    Yale University
    Yale Kavli Institute for Neuroscience)

  • Alexej Abyzov

    (Mayo Clinic)

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.

Suggested Citation

  • Yeongjun Jang & Livia Tomasini & Taejeong Bae & Anna Szekely & Flora M. Vaccarino & Alexej Abyzov, 2024. "Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline," Nature Communications, Nature, vol. 15(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-53485-x
    DOI: 10.1038/s41467-024-53485-x
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    References listed on IDEAS

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    1. Seongyeol Park & Nanda Maya Mali & Ryul Kim & Jeong-Woo Choi & Junehawk Lee & Joonoh Lim & Jung Min Park & Jung Woo Park & Donghyun Kim & Taewoo Kim & Kijong Yi & June Hyug Choi & Seong Gyu Kwon & Joo, 2021. "Clonal dynamics in early human embryogenesis inferred from somatic mutation," Nature, Nature, vol. 597(7876), pages 393-397, September.
    2. Michael Spencer Chapman & Anna Maria Ranzoni & Brynelle Myers & Nicholas Williams & Tim H. H. Coorens & Emily Mitchell & Timothy Butler & Kevin J. Dawson & Yvette Hooks & Luiza Moore & Jyoti Nangalia , 2021. "Lineage tracing of human development through somatic mutations," Nature, Nature, vol. 595(7865), pages 85-90, July.
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