Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal regionSchiebel K.a · Meder J.a · Rump A.b · Rosenthal A.b · Winkelmann M.a · Fischer C.a · Bonk T.c · Humeny A.c · Rappold G.A.a
aInstitute of Human Genetics, Heidelberg University, Heidelberg; bInstitute of Molecular Biotechnology, Department of Genome Analysis, Jena; cInstitute for Biochemistry, University of Erlangen-Nürnberg, Erlangen (Germany)
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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 and sequence of tandem repeats.
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