Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Nature. 1985 Oct 24-30;317(6039):687-92. doi: 10.1038/317687a0.


Pairing of human X and Y chromosomes during meiosis initiates within the so-called pairing region at the telomeres or the chromosome short arms. Using DNA from the Y chromosome we found sequence homology in the pairing region of the human X and Y chromosomes. This DNA is telomeric, contains repetitive sequences and is highly polymorphic in the population. The polymorphism has allowed family studies which show the sequences are not inherited as though linked to the sex chromosomes. This 'pseudoautosomal' pattern of inheritance points to an obligate recombination in the pairing region of the sex chromosomes during male meiosis.

MeSH terms

  • Chromosome Mapping
  • Cloning, Molecular
  • DNA / genetics
  • DNA Restriction Enzymes
  • Female
  • Humans
  • Male
  • Meiosis*
  • Polymorphism, Genetic
  • Recombination, Genetic*
  • Sex Chromosomes* / ultrastructure


  • DNA
  • DNA Restriction Enzymes