The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.
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چکیده
منابع مشابه
The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.
The molecular basis of the classical human phosphoglucomutase 1 (PGM1) isozyme polymorphism has been established. In 1964, when this genetic polymorphism was first described, two common allelozymes PGM1 and PGM1 2 were identified by starch gel electrophoresis. The PGM1 2 isozyme showed a greater anodal electrophoretic mobility than PGM1 1. Subsequently, it was found that each of these allelozym...
متن کاملMapping recombination hotspots in human phosphoglucomutase (PGM1).
Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8,...
متن کاملA phylogeny for the principal alleles of the human phosphoglucomutase-1 locus.
The results of phosphoglucomutase-1 (PGM1) typings by starch gel electrophoresis and subtypings by isoelectric focusing are presented for a sample of Japanese. A distinction made on the basis of isoelectric focusing (termed "+" and "-") is nonrandomly associated with each of the products of the four most common electrophoretic alleles (PGM1(1), PGM1(2), PGM1(3), and PGM1(7). The isoelectric tra...
متن کاملHuman polymorphism around recombination hotspots.
Meiotic recombination in humans is thought to occur as part of the resolution of DSBs (double-strand breaks). The repair of DSBs potentially leads to biases in DNA repair that can distort the population frequency of the alleles at single-nucleotide polymorphisms. Genome-wide variation data provide evidence for a weak fixation bias in favour of G and C alleles that is strongest at the centre of ...
متن کاملOn the conservative nature of intragenic recombination.
Intragenic recombination rapidly creates protein sequence diversity compared with random mutation, but little is known about the relative effects of recombination and mutation on protein function. Here, we compare recombination of the distantly related beta-lactamases PSE-4 and TEM-1 to mutation of PSE-4. We show that, among beta-lactamase variants containing the same number of amino acid subst...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1993
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.90.22.10730