Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

Cytogenet Cell Genet. 2000;91(1-4):224-30. doi: 10.1159/000056849.


The evolution, inheritance and recombination rate of genes located in the pseudoautosomal region 1 (PAR1) is exceptional within the human genome. Pseudoautosomal genes are identical on X and Y chromosomes and are not inherited in a sex linked manner. Due to an obligatory recombination event in male meiosis, pseudoautosomal genes are exchanged frequently between X and Y chromosomes. During the isolation, characterization and sequencing of a novel gene PPP2R3L, which was classified by sequence homology as a novel member of the protein phosphatase regulatory subunit families, it became apparent that cosmids of different origin harboring this gene are highly polymorphic between individuals, both at the nucleotide level and in the number.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Cloning, Molecular
  • Crossing Over, Genetic / genetics
  • DNA, Complementary / genetics
  • Dosage Compensation, Genetic
  • Gene Dosage
  • Gene Expression Profiling
  • Genetic Variation / genetics*
  • Humans
  • Molecular Sequence Data
  • Phosphoric Monoester Hydrolases / chemistry
  • Phosphoric Monoester Hydrolases / genetics*
  • Polymorphism, Genetic / genetics*
  • Protein Subunits
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Sex Chromosomes / genetics*


  • DNA, Complementary
  • Protein Subunits
  • RNA, Messenger
  • Phosphoric Monoester Hydrolases