dc.contributor.author | Georgiades, Pantelis | en |
dc.contributor.author | Watkins, M. | en |
dc.contributor.author | Surani, M. A. | en |
dc.contributor.author | Ferguson-Smith, A. C. | en |
dc.creator | Georgiades, Pantelis | en |
dc.creator | Watkins, M. | en |
dc.creator | Surani, M. A. | en |
dc.creator | Ferguson-Smith, A. C. | en |
dc.date.accessioned | 2019-11-04T12:50:37Z | |
dc.date.available | 2019-11-04T12:50:37Z | |
dc.date.issued | 2000 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53095 | |
dc.description.abstract | Genetic analysis has shown that the distal portion of mouse chromosome 12 is imprinted | en |
dc.description.abstract | however, the developmental roles of imprinted genes in this region are not known. We have therefore generated conceptuses with uniparental disomy for chromosome 12, in which both copies of chromosome 12 are either paternally or maternally derived (pUPD12 and mUPD12, respectively). Both types of UPD12 result in embryos that are non-viable and that exhibit distinct developmental abnormalities. Embryos with pUPD12 die late in gestation, whereas embryos with mUPD12 can survive to term but die perinatally. The mUPD12 conceptuses are invariably growth-retarded while pUPD12 conceptuses exhibit placentomegaly. Skeletal muscle maturation defects are evident in both types of UPD12. In addition, embryos with paternal UPD12 have costal cartilage defects and hypo-ossification of mesoderm-derived bones. In embryos with mUPD12, the development of the neural crest-derived middle ear ossicles is defective. Some of these anomalies are consistent with those seen with uniparental disomies of the orthologous chromosome 14 region in humans. Thus, imprinted genes on chromosome 12 are essential for viability, the regulation of prenatal growth, and the development of mesodermal and neural crest-derived lineages. | en |
dc.source | Development | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033694804&partnerID=40&md5=43e280bcfb18fbc351b182370b33a53f | |
dc.subject | article | en |
dc.subject | controlled study | en |
dc.subject | female | en |
dc.subject | priority journal | en |
dc.subject | Bone and Bones | en |
dc.subject | survival | en |
dc.subject | Placenta | en |
dc.subject | Pregnancy | en |
dc.subject | growth retardation | en |
dc.subject | male | en |
dc.subject | nonhuman | en |
dc.subject | gestational age | en |
dc.subject | Animals | en |
dc.subject | Mice | en |
dc.subject | animal cell | en |
dc.subject | animal experiment | en |
dc.subject | animal model | en |
dc.subject | animal tissue | en |
dc.subject | mouse | en |
dc.subject | skeletal muscle | en |
dc.subject | genetic analysis | en |
dc.subject | heredity | en |
dc.subject | developmental disorder | en |
dc.subject | placenta disorder | en |
dc.subject | Genotype | en |
dc.subject | Abnormalities | en |
dc.subject | Animalia | en |
dc.subject | embryo | en |
dc.subject | embryo development | en |
dc.subject | Muscle, Skeletal | en |
dc.subject | Vertebrata | en |
dc.subject | mesoderm | en |
dc.subject | prenatal development | en |
dc.subject | cell lineage | en |
dc.subject | Chromosome Mapping | en |
dc.subject | genome imprinting | en |
dc.subject | Genomic Imprinting | en |
dc.subject | Embryonic and Fetal Development | en |
dc.subject | muscle development | en |
dc.subject | Aneuploidy | en |
dc.subject | Uniparental disomy | en |
dc.subject | auditory ossicle | en |
dc.subject | bone malformation | en |
dc.subject | Chromosome 12 | en |
dc.subject | chromosome 14 | en |
dc.subject | conception | en |
dc.subject | Crosses, Genetic | en |
dc.subject | embryo death | en |
dc.subject | Fetal growth | en |
dc.subject | Imprinting | en |
dc.subject | Mouse development | en |
dc.subject | neural crest | en |
dc.subject | perinatal death | en |
dc.subject | rib cartilage | en |
dc.subject | rib malformation | en |
dc.subject | Rodentia | en |
dc.title | Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12 | en |
dc.type | info:eu-repo/semantics/article | |
dc.description.volume | 127 | |
dc.description.startingpage | 4719 | |
dc.description.endingpage | 4728 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :133</p> | en |
dc.source.abbreviation | Development (Cambridge) | en |
dc.contributor.orcid | Georgiades, Pantelis [0000-0002-5538-3163] | |
dc.gnosis.orcid | 0000-0002-5538-3163 | |