• loci
  • Indeed, imprinted loci have been shown to underlie some important quantitative traits in domestic mammals, most notably muscle mass and fat deposition. (springer.com)
  • These findings suggest that GNAS domain-associated polymorphisms may serve as important genetic markers for future livestock breeding programs and support previous studies that candidate imprinted loci may act as molecular targets for the genetic improvement of agricultural populations. (springer.com)
  • A genomic analysis of the human homeobox gene loci HOX 1 and HOX 2 (PhD thesis). (wikipedia.org)
  • Silencing of Ube3a on the paternal allele is thought to occur through the Ube3a-ATS part of LNCAT, since non-coding antisense transcripts are often found at imprinted loci. (wikipedia.org)
  • genes to be expressed
  • Ferguson-Smith conducted postdoctoral research with Azim Surani at the University of Cambridge from 1989 to 1994, where she initiated molecular studies on genomic imprinting - the process causing genes to be expressed according to their parental origin. (wikipedia.org)
  • 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)
  • Importantly, we find that, as in normal brain, imprinting of UBE3A is established during neuronal differentiation of AS iPSCs, with the paternal UBE3A allele repressed concomitant with up-regulation of the UBE3A antisense transcript. (fpwr.org)
  • 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)
  • 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)
  • interactions
  • 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)
  • Results from numerous studies have identified several genomic regions known to be subject to imprinting, candidate genes, and gene-environment interactions. (wikipedia.org)
  • 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)
  • Peg3
  • 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)
  • 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)
  • patterns
  • In this review, we consider the mRNAs and novel genes with unique expression and imprinting patterns that were discovered using systems biology approaches with primate pluripotent stem and germ cells. (biomedcentral.com)
  • pluripotent
  • 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)
  • 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)