Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate
| Autor: | Daniel F. Gudbjartsson, Michael L. Frigge, Agnar Helgason, Unnur Thorsteinsdottir, Gudrun M. Jonsdottir, Theodora Thorlacius, Aslaug Jonasdottir, Gisli Masson, Stefan T Palsson, Augustine Kong, Sverrir T. Sverrisson, Hreinn Stefansson, Gudmundur A. Hardarson, Sigurjon A. Gudjonsson, Jeffrey R. Gulcher, Kari Stefansson, Gudmar Thorleifsson |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Ubiquitin-Protein Ligases Molecular Sequence Data Population Non-allelic homologous recombination Mothers Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Linkage Disequilibrium Ligases Fathers Humans Ectopic recombination education Gene Alleles Recombination Genetic Genetics Sex Characteristics education.field_of_study Multidisciplinary Genome Human Synaptonemal Complex Haplotype Chiasma Meiosis Haplotypes Female Chromosomes Human Pair 4 Recombination |
| Zdroj: | Science. 319:1398-1401 |
| ISSN: | 1095-9203 0036-8075 |
| Popis: | The genome-wide recombination rate varies between individuals, but the mechanism controlling this variation in humans has remained elusive. A genome-wide search identified sequence variants in the 4p16.3 region correlated with recombination rate in both males and females. These variants are located in the RNF212 gene, a putative ortholog of the ZHP-3 gene that is essential for recombinations and chiasma formation in Caenorhabditis elegans . It is noteworthy that the haplotype formed by two single-nucleotide polymorphisms (SNPs) associated with the highest recombination rate in males is associated with a low recombination rate in females. Consequently, if the frequency of the haplotype changes, the average recombination rate will increase for one sex and decrease for the other, but the sex-averaged recombination rate of the population can stay relatively constant. |
| Databáze: | OpenAIRE |
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