The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate
Abstract
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.
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Cites
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162
An evolutionary view of human recombination
Coop, G., & Przeworski, M. (2007) · Nature Reviews Genetics · doi:10.1038/nrg1947 · Cited by 344
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Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889
Sex-specific genetic architecture of human disease
Ober, C., Loisel, D. A., & Gilad, Y. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2415 · Cited by 787
Comprehensive literature review and statistical considerations for microarray meta-analysis
Tseng, G. C., Ghosh, D., & Feingold, E. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1265 · Cited by 526
Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm
Wang, J., Fan, H. C., Behr, B., & Quake, S. R. (2012) · Cell · doi:10.1016/j.cell.2012.06.030 · Cited by 511
Gender Differences in Cancer Susceptibility: An Inadequately Addressed Issue
Dorak, M. T., & Karpuzoglu, E. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00268 · Cited by 493
Metadata
- Authors
- Kong, A., Thorleifsson, G., Stefansson, H., Masson, G., Helgason, A., Gudbjartsson, D. F., Jonsdottir, G. M., Gudjonsson, S. A., Sverrisson, S., Thorlacius, T., Jonasdottir, A., Hardarson, G. A., Palsson, S. T., Frigge, M. L., Gulcher, J. R., Thorsteinsdottir, U., & Stefansson, K.
- Venue
- Science
- Published
- 2008-03-07
- Volume
- 319
- Issue
- 5868
- Pages
- 1398-1401
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2089847071
- Cited by
- 219
- References
- 3
- FWCI
- 9.14
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kong, A., Thorleifsson, G., Stefansson, H., Masson, G., Helgason, A., Gudbjartsson, D. F., Jonsdottir, G. M., Gudjonsson, S. A., Sverrisson, S., Thorlacius, T., Jonasdottir, A., Hardarson, G. A., Palsson, S. T., Frigge, M. L., Gulcher, J. R., Thorsteinsdottir, U., & Stefansson, K. (2008). Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate. Science. https://doi.org/10.1126/science.1152422
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