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Computational and experimental identification of novel human imprinted genes
Open accessAbstract
Imprinted genes are essential in embryonic development, and imprinting dysregulation contributes to human disease. We report two new human imprinted genes: KCNK9 is predominantly expressed in the brain, is a known oncogene, and may be involved in bipolar disorder and epilepsy, while DLGAP2 is a candidate bladder cancer tumor suppressor. Both genes lie on chromosome 8, not previously suspected to contain imprinted genes. We identified these genes, along with 154 others, based on the predictions of multiple classification algorithms using DNA sequence characteristics as features. Our findings demonstrate that DNA sequence characteristics, including recombination hot spots, are sufficient to accurately predict the imprinting status of individual genes in the human genome.
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Cites
Improved tools for biological sequence comparison.
Pearson, W. R., & Lipman, D. J. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.8.2444 · Cited by 11,227
Environmental epigenomics and disease susceptibility
Jirtle, R. L., & Skinner, M. K. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2045 · Cited by 2,492
Self-citation
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Parental origin of sequence variants associated with complex diseases
DIAGRAM Consortium, Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. T., et al. (2009) · Nature · doi:10.1038/nature08625 · Cited by 553
Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome
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The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta
Noguer-Dance, M., Abu-Amero, S., Al-Khtib, M., Lefevre, A., Coullin, P., Moore, G. E., & Cavaille, J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq272 · Cited by 323
Metadata
- Authors
- Luedi, P. P., Dietrich, F. S., Weidman, J. R., Bosko, J. M., Jirtle, R. L., & Hartemink, A. J.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2007-11-30
- Volume
- 17
- Issue
- 12
- Pages
- 1723-1730
- ISSN
- 1088-9051 (ISSN-L)
- OpenAlex
- W2171538603
- Cited by
- 398
- References
- 2
- Type
- posted content
- Language
- en
- Open access
- bronze
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- Luedi, P. P., Dietrich, F. S., Weidman, J. R., Bosko, J. M., Jirtle, R. L., & Hartemink, A. J. (2007). Computational and experimental identification of novel human imprinted genes. Genome Research. https://doi.org/10.1101/gr.6584707
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