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Letter

Computational and experimental identification of novel human imprinted genes

¹ Center for Bioinformatics and Computational Biology, Duke University, Durham, North Carolina 27708, USA; ² Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina 27708, USA; ³ Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA; ⁴ Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA; ⁵ Department of Computer Science, Duke University, Durham, North Carolina 27708, USA

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.

E-mail amink{at}cs.duke.edu; fax (919) 660-6519.

E-mail jirtle{at}radonc.duke.edu; fax (919) 684-5584.

[Supplemental material is available online at www.genome.org.]

Article published online before print. Article and publication date are at http://www.genome.org/cgi/doi/10.1101/gr.6584707

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