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

The evolution, inheritance and recombination rate of genes located in the p seudoautosomal region 1 (PAR1) is exceptional within the human genome. Pseu doautosomal genes are identical on X and Y chromosomes and are not inherite d in a sex linked manner. Due to an obligatory recombination event in male meiosis, pseudoautosomal genes are exchanged frequently between X and Y chr omosomes. During the isolation, characterization and sequencing of a novel gene PPP2R3L, which was classified by sequence homology as a novel member o f the protein phosphatase regulatory subunit families, it became apparent t hat cosmids of different origin harboring this gene are highly polymorphic between individuals, both at the nucleotide level and in the number and seq uence of tandem repeats. Copyright (C) 2001 S. Karger AG, Basel.