title: Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior.
abstract: The paternally expressed Peg3 gene in mice encodes an unusual Krüppel-type zinc finger protein implicated in critical cellular and behavioral functions including growth, apoptosis, and maternal nurturing behavior. Methylation and expression analyses were used to determine whether PEG3 on chromosome 19q13.4 is imprinted in humans. The PEG3 promoter is encompassed within a large CpG-rich region that is differentially methylated in fetal tissues. Furthermore, expression studies demonstrate that PEG3 is ubiquitously imprinted throughout development and postnatally. Multiple isoforms of the PEG3 gene, including a novel transcript, are paternally expressed. These results are the first to show that human chromosome 19q13.4 contains an imprinted region. The imprinted status of PEG3 throughout life coupled with its neural expression and putative roles in regulating cell growth suggests that PEG3 may be a susceptibility locus for cancer as well as neurobehavioral deficits.
authors.affiliation: Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: S K
authors.initials: SK
authors.lastname: Murphy
authors.forename: A A
authors.initials: AA
authors.lastname: Wylie
authors.forename: R L
authors.initials: RL
authors.lastname: Jirtle
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002470:Cell Survival; D002888:Chromosomes, Human, Pair 19; D018899:CpG Islands; D019175:DNA Methylation; D005824:Genetics, Behavioral; D018392:Genomic Imprinting; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D008297:Male; D051379:Mice; D008957:Models, Genetic; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D020033:Protein Isoforms; D011494:Protein Kinases; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013737:Testis / Q000378:metabolism; D014018:Tissue Distribution; D014157:Transcription Factors
chemical_list: D051741:Kruppel-Like Transcription Factors; C490820:PEG3 protein, human; C097901:Peg3 protein, mouse; D020033:Protein Isoforms; D011506:Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; D011494:Protein Kinases