Lynx reintroduction from a bottlenecked source exposes a lethal genetic defect.

A recessive loss-of-function allele causing lethal organ mineralization in young Lynx lynx was identified in a Swiss reintroduced population, with founder effects and inbreeding driving its rise.

• Why it matters: Reintroductions can create small, isolated populations where reduced gene flow and inbreeding may expose recessive deleterious alleles, but no causal lethal variant had been pinpointed in a wild population.
• What they did: The study integrated long-term health and population records with genomic analyses, then used spatio-temporal approaches to trace allele introduction from a source population and track its frequency change.
• The result: The work links reintroduction history to a lethal genetic disease in the wild and shows how founder effects and inbreeding can shape the fate of a recessive deleterious allele in small, isolated populations.

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