Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region
| Autor: | T. Bonk, J. Meder, Christine Fischer, André Rosenthal, A. Rump, Gudrun A. Rappold, Andreas Humeny, M. Winkelmann, K. Schiebel |
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| Rok vydání: | 2000 |
| Předmět: |
DNA
Complementary Molecular Sequence Data Pseudoautosomal region Gene Dosage Biology Y chromosome Genome Homology (biology) Tandem repeat Dosage Compensation Genetic Genetics Humans Amino Acid Sequence Crossing Over Genetic RNA Messenger Cloning Molecular Molecular Biology Gene Genetics (clinical) Polymorphism Genetic Sex Chromosomes Sequence Homology Amino Acid Gene Expression Profiling Nucleic acid sequence Genetic Variation Phosphoric Monoester Hydrolases Protein Subunits Human genome Sequence Alignment |
| Zdroj: | Europe PubMed Central |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000056849 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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