Segregation distortion, the disproportionate inheritance of selfish genetic elements, is an important evolutionary force. While many species carry distorters, it is not clear if humans do. Major limitations for detecting human distortion are the small size of human families and the lack of genetic markers in most subjects. Here, we present evidence of strong distortion in a large human pedigree. We analyzed pedigrees from the Utah Population Database and identified lineages with a high chance of carrying a distorter. In particular, we identified a family that preferentially produced male offspring at a 2:1 ratio. This pattern is consistent with a distorting Y-chromosome, a rarity in species with degenerate Y-chromosomes. The detection of such non-Mendelian inheritance patterns suggests that human genomes may harbor segregation distorters.
Signatures of sex ratio distortion in humans
James G. Baldwin-Brown,S. Wesołowski,R. Reisinger,B. Peterson,M. Tristani-Firouzi,E. J. Hernandez,Kenneth I. Aston,Mark Yandell,Nitin Phadnis
Published 2026 in bioRxiv
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- Publication year
2026
- Venue
bioRxiv
- Publication date
2026-02-07
- Fields of study
Biology, Medicine
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