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. 10.1101/gr.6584707

UI - 22354682 DA - 20021205 IS - 0028-0836 LA - eng PT - Journal Article CY - England RN - 0 (Proteome) RN - 0 (RNA, Untranslated) SB - IM

Maureen E. Hillenmeyer,1,2 Eula Fung,1 Jan Wildenhain,3* Sarah E. Pierce,1,4 Shawn Hoon,1,4 William Lee,1,4 Michael Proctor,1 Robert P. St.Onge,1 Mike Tyers,3,5* Daphne Koller,6 Russ B. Altman,2,4 Ronald W. Davis,2,4 Corey Nislow,5,7,8 Guri Giaever5,8,9 Genetics aims to understand the relation between genotype and phenotype. However, because complete deletion of most yeast genes (80%) has no obvious phenotypic consequence in rich medium, it is difficult to study their functions. To uncover phenotypes for this nonessential fraction of the genome, we performed 1144 chemical genomic assays on the yeast whole-genome heterozygous and homozygous deletion collections and quantified the growth fitness of each deletion strain in the presence of chemical or environmental stress conditions. We found that 97% of gene deletions exhibited a measurable growth phenotype, suggesting that nearly all genes are essential for optimal growth in at least one condition. 1 Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA. 2 Program in Biomedical Informatics, Stanford University, PaloAlto, CA94305, USA. 3 SamuelLunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G1X5, Canada. 4 Department of Genetics, Stanford University, Stanford, CA 94305, USA. 5 Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S1A8, Canada. 6 Department of Computer Science, Stanford University, Palo Alto, CA 94305, USA. 7 Banting and Best Department of Medical Research, University of Toronto, Toronto, Ontario M5S3E1, Canada. 8 Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S3E1, Canada. 9 Department of Pharmaceutical Sciences, University of Toronto, Toronto, Ontario M5S3M2, Canada. * Present address: Wellcome Trust Centre for Cell Biology, University of Edinburg, King's Buildings, Mayfield Road, Edinburg EH9 3JR, UK. To whom correspondence should be addressed. E-mail: guri.giaever@utoronto.ca

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