The fragile Y hypothesis: Y chromosome aneuploidy as a selective pressure in sex chromosome and meiotic mechanism evolution

Heath Blackmon, Jeffery P. Demuth

Research output: Contribution to journalComment/debatepeer-review

14 Scopus citations

Abstract

Loss of the Y-chromosome is a common feature of species with chromosomal sex determination. However, our understanding of why some lineages frequently lose Y-chromosomes while others do not is limited. The fragile Y hypothesis proposes that in species with chiasmatic meiosis the rate of Y-chromosome aneuploidy and the size of the recombining region have a negative correlation. The fragile Y hypothesis provides a number of novel insights not possible under traditional models. Specifically, increased rates of Y aneuploidy may impose positive selection for (i) gene movement off the Y; (ii) translocations and fusions which expand the recombining region; and (iii) alternative meiotic segregation mechanisms (achiasmatic or asynaptic). These insights as well as existing evidence for the frequency of Y-chromosome aneuploidy raise doubt about the prospects for long-term retention of the human Y-chromosome despite recent evidence for stable gene content in older non-recombining regions.

Original languageEnglish (US)
Pages (from-to)942-950
Number of pages9
JournalBioEssays
Volume37
Issue number9
DOIs
StatePublished - Sep 1 2015

Keywords

  • Achiasmatic meiosis
  • Aneuploidy
  • Fragile Y
  • Sex chromosome evolution
  • Turner syndrome
  • Y-chromosome loss

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