bioRxivJClub
Somatic evolution of cancer genes in sex chromosomes
bioRxiv · · Preprint · Open access
Akachukwu, Ratcliff + 2 more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Loss-of-function mutations in male X-linked tumour-suppressor genes show a higher loss-of-function-to-synonymous ratio and more complete gene losses than autosomal TSGs.
- Why it matters: The diploid “two-hit” framework may not fit hemizygous male X-linked genes, so sex- and chromosome-specific somatic evolution needs quantitative testing.
- What they did: The study adapts haploid and diploid asexual adaptation models to somatic evolution and tests predictions using COSMIC somatic mutation data, excluding genes with copy-number alterations or promoter methylation.
- The result: Male tumours show higher X-linked OG loss-of-function rates than autosomal OGs, with the X-versus-autosome pattern reversed in low-proliferation tumours (not statistically significant), while neutral synonymous rates differ by sex but not by chromosome.
The findingWhy it mattersWhat they didThe result
- Open access