Inherent mosaicism and extensive mutation of human placentas

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• Sam Behjati, Wellcome Trust Sanger Institute
• Tuesday 15 November 2022, 12:30-13:30
• Lecture Theatre, Department of Pathology, Tennis Court Road.

If you have a question about this talk, please contact Michael Boemo.

Placentas can exhibit chromosomal aberrations that are absent from the fetus. The basis of this genetic segregation, which is known as confined placental mosaicism, remains unknown. We investigated the phylogeny of human placental cells as reconstructed from somatic mutations. We found that every bulk placental sample represents a clonal expansion that is genetically distinct, and exhibits a genomic landscape akin to that of childhood cancer in terms of mutation burden and mutational imprints. To our knowledge, unlike any other healthy human tissue studied so far, the placental genomes often contained changes in copy number. We reconstructed phylogenetic relationships between tissues from the same pregnancy, which revealed that developmental bottlenecks genetically isolate placental tissues by separating trophectodermal lineages from lineages derived from the inner cell mass. Our findings reveal extensive mutagenesis in placental tissues and suggest that mosaicism is a typical feature of placental development.

This talk is part of the Cellular and Molecular Pathology Seminars series.

This talk is included in these lists:

• Cellular and Molecular Pathology Seminars
• Lecture Theatre, Department of Pathology, Tennis Court Road

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