Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

@article{Repping2003PolymorphismFA,
  title={Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection},
  author={S. Repping and H. Skaletsky and L. Brown and S. K. V. Daalen and C. Korver and Tatyana Pyntikova and Tomoko Kuroda-Kawaguchi and J. D. Vries and R. Oates and S. Silber and F. Veen and D. Page and S. Rozen},
  journal={Nature Genetics},
  year={2003},
  volume={35},
  pages={247-251}
}
Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm… Expand
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