Computational and experimental identification of novel human imprinted genes
Computational and experimental identification of novel human imprinted genes
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DOI：
10.1101/gr.6584707
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发表时间：
2007-12-01
期刊：
影响因子：
7
通讯作者：
Hartemink, Alexander J.
中科院分区：
文献类型：
--
作者：
Luedi, Philippe P.;Dietrich, Fred S.;Hartemink, Alexander J.
印迹基因在胚胎发育中是必不可少的，而印迹失调会导致人类疾病。我们报道了两个新的人类印迹基因：KCNK9主要表达于大脑，是一种已知的致癌基因，可能与双相情感障碍和癫痫有关，而DLGAP2是一种候选的膀胱癌肿瘤抑制基因。这两个基因都位于第8号染色体上，以前没有人怀疑它们含有印迹基因。基于使用DNA序列特征作为特征的多种分类算法的预测，我们确定了这些基因以及其他154个基因。我们的研究结果表明，DNA序列特征，包括重组热点，足以准确预测人类基因组中单个基因的印迹状态。
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.