• ALLELE
  • The DNA from one parent may be epigenetically modified so that only a single allele of the imprinted gene is expressed in the offspring. (biomedcentral.com)
  • Thus, phenotype expression of imprinted genes is a consequence not only of sequence variation per se , but also of methylation and histone modifications that silence one allele, allowing a normal state of monoallelic gene expression without altering DNA sequence. (biomedcentral.com)
  • In contrast to imprinting, however, disease risk in this example is influenced by the sex of the offspring as opposed to the sex of the parent transmitting the risk allele. (biomedcentral.com)
  • Both dominant and recessive modes of action have been postulated for the role of imprinted genes in neoplasia, as a result of effective gene dosage alterations by epigenetic modification of the normal pattern of allele specific transcription. (bmj.com)
  • Imprinting is an unusual form of gene regulation, specific to mammals, in which expression of an allele is restricted according to parental origin. (nih.gov)
  • cluster
  • Previous studies in other mammalian species have shown that DNA sequence variation within the imprinted GNAS gene cluster contributes to several physiological and metabolic disorders, including obesity in humans and mice. (springer.com)
  • Similarly, the results presented here indicate an important role for the imprinted GNAS cluster in underlying complex performance traits in cattle such as animal growth, calving, fertility and health. (springer.com)
  • 15q11-13 in humans contains a cluster of genetically imprinted genes important for normal neurodevelopment. (wikipedia.org)
  • disorders
  • Although imprinting has an important role in the regulation of growth and development through its role in regulating gene expression, its contribution to susceptibility to common complex disorders is not well understood. (biomedcentral.com)
  • These iPSC models of genomic imprinting disorders will facilitate investigation of the AS and PWS disease processes and allow study of the developmental timing and mechanism of UBE3A repression in human neurons. (fpwr.org)
  • A study on hybrid mice which investigated the possible causes for hybrid growth disorders reveals genomic imprinting to have a major effect. (wikipedia.org)
  • Overexpression of maternally imprinted genes is predicted to cause autism, which focuses attention to the maternally expressed genes on 15q11-13, although it is still possible that alterations in the expression of both imprinted and bilallelically expressed genes contribute to these disorders. (wikipedia.org)
  • Like other imprinting disorders (e.g. (wikipedia.org)
  • humans
  • As of 2014, there are about 150 imprinted genes known in the mouse and about half that in humans. (wikipedia.org)
  • The mammalian GNAS domain consists of a number of reciprocally-imprinted, alternatively-spliced genes which can play a major role in growth, development and disease in mice and humans. (springer.com)
  • maternally
  • Notably, maternally methylated imprinted genes ( Peg1 , Peg3 , Igf2r , Snrpn , and Ndn ) whose differentially methylated regions (DMRs) were fully methylated in pNSCs, were demethylated, and their expression levels were found to be close to the levels in normal biparental fNSCs after reprogramming and redifferentiation. (biologists.org)
  • In addition, we present new evidence that the bovine NESP55 gene is epigenetically regulated as a maternally expressed imprinted gene in placental and intestinal tissues from 8-10 week old bovine foetuses. (springer.com)
  • sequences
  • Genomic imprinting is when identical nucleotide sequences produce different phenotypes depending on whether they come from the male or female parent. (everything2.com)
  • A 2002 study revised the rules of CpG island prediction to exclude other GC-rich genomic sequences such as Alu repeats. (wikipedia.org)
  • somatic cells
  • These epigenetic marks are established ("imprinted") in the germline (sperm or egg cells) of the parents and are maintained through mitotic cell divisions in the somatic cells of an organism. (wikipedia.org)
  • Our findings suggest that pluripotent reprogramming of parthenogenetic somatic cells followed by redifferentiation leads to changes in DNA methylation of imprinted genes and the reestablishment of gene expression levels to those of normal biparental cells. (biologists.org)
  • placental
  • Similarly, a study of hybrids between dwarf hamster species Phodopus campbelli and Phodopus sungorus suggests that gene imprinting causes abnormal interactions between growth-promoting and growth-repressing genes which regulate placental and embryonic growth. (wikipedia.org)
  • Studies of the mouse gene, however, which is also located in an imprinted gene domain, have shown that the product of this gene regulates placental growth. (wikipedia.org)
  • UBE3A
  • For the most part, it is thought that at least some type of Ube3a-ATS is expressed in CNS cells that are imprinted, such as Purkinje cells and hippocampal neurons. (wikipedia.org)
  • mouse
  • Publications] F.ISHINO et al: 'Screening of imprinting in the mouse. (nii.ac.jp)
  • Publications] F.Ishino et al: 'Screening of imprinting genes in the mouse' Abstracts in The Eighth International Conference of the International Society of Differentiation Hiroshima. (nii.ac.jp)
  • Past projects in the Kim lab have included studying the epigenetic instability of imprinted genes during tumorigenesis, potential roles of AEBP2 as a PRC2 targeting protein and in neural crest cell development, as well as the DNA methylation of mouse and human retrotransposons. (wikipedia.org)
  • In addition, mouse neurons continue to retain their imprinting pattern in culture. (wikipedia.org)
  • process
  • This is a complicated process because the imprint can be erased and reset. (edge.org)
  • The parthenogenetic pattern of imprinted genes changes during the generation of parthenogenetic maternal iPSCs (miPSCs), a process referred to as pluripotent reprogramming. (biologists.org)
  • Although induced pluripotent stem cells (iPSCs) provide invaluable models of human disease, nuclear reprogramming could limit the usefulness of iPSCs from patients who have AS and PWS should the genomic imprint marks be disturbed by the epigenetic reprogramming process. (fpwr.org)