title: Cellular functions of genetically imprinted genes in human and mouse as annotated in the gene ontology.
abstract: By analyzing the cellular functions of genetically imprinted genes as annotated in the Gene Ontology for human and mouse, we found that imprinted genes are often involved in developmental, transport and regulatory processes. In the human, paternally expressed genes are enriched in GO terms related to the development of organs and of anatomical structures. In the mouse, maternally expressed genes regulate cation transport as well as G-protein signaling processes. Furthermore, we investigated if imprinted genes are regulated by common transcription factors. We identified 25 TF families that showed an enrichment of binding sites in the set of imprinted genes in human and 40 TF families in mouse. In general, maternally and paternally expressed genes are not regulated by different transcription factors. The genes Nnat, Klf14, Blcap, Gnas and Ube3a contribute most to the enrichment of TF families. In the mouse, genes that are maternally expressed in placenta are enriched for AP1 binding sites. In the human, we found that these genes possessed binding sites for both, AP1 and SP1.
authors.affiliation: Center for Bioinformatics, Saarland University, Saarbrücken, Germany.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Hamed
authors.forename: Siba
authors.initials: S
authors.lastname: Ismael
authors.forename: Martina
authors.initials: M
authors.lastname: Paulsen
authors.forename: Volkhard
authors.initials: V
authors.lastname: Helms
mesh_terms: D000818:Animals; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D005809:Genes, Regulator; D018392:Genomic Imprinting; D006801:Humans; D040582:Inheritance Patterns; D017136:Ion Transport / Q000235:genetics; D008297:Male; D051379:Mice; D011247:Pregnancy; D011270:Pregnancy, Animal; D015398:Signal Transduction / Q000235:genetics; D049490:Systems Biology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors; D019204:GTP-Binding Proteins