Recurrent mitotic error and purifying selection shape chromosomal mosaicism across human tissues

Across 722 tissue samples from 25 human donors, autosomal mosaic chromosomal alterations >1 Mb were mapped, with sex-chromosome loss showing tissue-specific gradients and adrenal gland exception.

• Why it matters: Healthy solid tissues are less characterized than cancer and clonal hematopoiesis, leaving unclear how recurrent mitotic errors and selection shape mosaicism during aging.
• What they did: Using >200x whole-genome sequencing from the SMaHT Network, the study called 1,008 autosomal mCAs >1 Mb and assessed sex-chromosome losses and patterns across 19 tissues.
• The result: Most autosomal aneuploidies show tissue-specific negative selection, while adrenal gland has pervasive low-level aneuploidy; testis shows rare aneuploidy but frequent low-level CN-LOH.

AI summary of the abstract · may contain errors · not medical advice · read the paper.