Computational and experimental identification of novel human imprinted genes.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Luedi, PP; Dietrich, FS; Weidman, JR; Bosko, JM; Jirtle, RL; Hartemink, AJ

Published Date

  • December 2007

Published In

Volume / Issue

  • 17 / 12

Start / End Page

  • 1723 - 1730

PubMed ID

  • 18055845

Pubmed Central ID

  • PMC2099581

International Standard Serial Number (ISSN)

  • 1088-9051

Digital Object Identifier (DOI)

  • 10.1101/gr.6584707


  • eng

Conference Location

  • United States