A5005089107- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Renal and related cancers
- Pluripotent Stem Cells Research
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Pregnancy and preeclampsia studies
- RNA Research and Splicing
- Evolution and Genetic Dynamics
- Animal Genetics and Reproduction
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Evolution and Paleontology Studies
- Cytomegalovirus and herpesvirus research
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Birth, Development, and Health
- Genomics and Phylogenetic Studies
Tokai University
2015-2025
Tokyo Medical and Dental University
2022-2023
The University of Tokyo
1988-2023
RMIT University
2008-2012
Kai Research (United States)
2008-2009
Japan Science and Technology Agency
1998-2005
Tokyo Institute of Technology
1994-2003
University of Tokyo Health Sciences
2002
Tokyo Metropolitan Institute of Medical Science
1998
Medical Research Council
1998
Genomic imprinting is an epigenetic mechanism that causes functional differences between paternal and maternal genomes, plays essential role in mammalian development. Stage-specific changes the DNA methylation patterns of imprinted genes suggest their imprints are erased some time during primordial germ cell (PGC) stage, before gametic re-established gametogenesis according to sex individuals. To define exact timing pattern erasure process, we have analyzed parental-origin-specific...
The paternal duplication of mouse distal chromosome 12 leads to late embryonal/neonatal lethality and growth promotion, whereas maternal embryonal retardation. Human or uniparental disomies 14q that are syntenic have also been reported show some imprinting effects on growth, mental activity musculoskeletal morphology. For the isolation imprinted genes in this region, a systematic screen maternally expressed (Megs) was carried out by our subtraction-hybridization method using androgenetic...
Phenotypic anomalies have been observed among animals cloned from somatic cells, putatively caused by epigenetic alterations, especially those of imprinted genes ([1][1]). However, the complexity potentially contributory technical factors associated with nuclear transfer (NT) experiments could
Among mammals, only eutherians and marsupials are viviparous have genomic imprinting that leads to parent-of-origin-specific differential gene expression. We used comparative analysis investigate the origin of in mammals. PEG10 (paternally expressed 10) is a retrotransposon-derived imprinted has an essential role for formation placenta mouse. Here, we show orthologue exists another therian mammal, marsupial tammar wallaby (Macropus eugenii), but not prototherian egg-laying platypus...
Parthenogenetic embryos, which contained one genome from a neonate-derived non-growing oocyte and the other fully grown oocyte, developed to day 13.5 of gestation in mice, 3 days longer than previously recorded for parthenogenetic development. To investigate hypothesis that disruption primary imprinting during growth leads modified expression imprinted genes this phenotype, we have examined Peg1/Mest, Igf2, Peg3, Snrpn, H19, Igf2r excess p57KIP2. We show paternally expressed genes, Peg3 are...
The mouse Peg1/Mest gene is an imprinted that expressed particularly in mesodermal tissues early embryonic stages. It was the most abundant among eight paternally genes (Peg 1–8) isolated by a subtraction-hybridization method from embryonal cDNA library. has been mapped to proximal chromosome 6, maternal duplication of which causes lethality. human chromosomal region shares syntenic homology with this 7q21-qter, and uniparental disomy 7 (UPD 7) apparent growth deficiency slight morphological...
In a systematic screen for maternally expressed imprinted genes using subtraction hybridization with androgenetic and normal fertilized mouse embryos, seven candidate ( Megs ) have been isolated, including the H19 p57 Kip2 that are known to be expressed. Herein, we demonstrate an gene, Meg1 , is apparently identical Grb10 (growth factor receptor-bound protein 10), which located on proximal chromosome 11. was reported bind insulin receptor and/or insulin-like growth (IGF) I via its src...
Mice with maternal duplication of proximal chromosome 6 die in utero at an early embryonic stage. Recently, two imprinted genes, paternally expressed Sgce and maternally Asb4 , were identified this region. This report analyzes the imprinting status genes within a 1-Mb region containing these genes. Peg10 which is next to shows complete paternal expression, like . Conversely, Neurabin, Pon2, Pon3 show preferential expression stages, although they all biallelic neonatal tissues. These results...
The acquisition of multiple genes from long terminal repeat (LTR) retrotransposons occurred in mammals. Genes belonging to a sushi-ichi-related retrotransposon homologs (SIRH) family emerged around the time establishment two viviparous mammalian groups, marsupials and eutherians. These encode proteins that are homologous Gag capsid protein sometimes also have Pol-like region. We previously demonstrated PEG10 (SIRH1) PEG11/RTL1 (SIRH2) play essential but different roles placental development....
The paternally expressed imprinted Retrotransposon-like 1 (Rtl1/Peg11) is a retrotransposon-derived gene that has evolved function in eutherian placentation. Seven miRNAs, including miR-127, are processed from maternally antisense Rtl1 transcript (Rtl1as) and regulate levels through RNAi-mediated post-transcriptional degradation. To determine the relative functional role of Rtl1as miRNAs dosage, we generated mouse specifically deleted for miR-127. miR-127 knockout mice exhibit placentomegaly...
Sirh7/Ldoc1 [sushi-ichi retrotransposon homolog 7/leucine zipper, downregulated in cancer 1, also called mammalian retrotransposon-derived 7 (Mart7)] is one of the newly acquired genes from LTR retrotransposons eutherian mammals. Interestingly, knockout (KO) mice exhibited abnormal placental cell differentiation/maturation, leading to an overproduction progesterone (P4) and lactogen 1 (PL1) trophoblast giant cells (TGCs). The placenta organ that essential for viviparity plays a major...
Mice with maternal duplication of proximal Chromosome 11 (MatDp(prox11)), where Meg1/Grb10 is located, exhibit pre- and postnatal growth retardation. To elucidate the responsible imprinted gene for abnormality, we examined precise structure regulatory mechanism this region generated novel model mice mimicking pattern expression observed in MatDp(prox11) by deleting differentially methylated (Meg1-DMR). It was found that Cobl Ddc, neighboring genes Meg1/Grb10, also comprise region. We...
Abstract The CRISPR/Cas system efficiently introduces double strand breaks (DSBs) at a genomic locus specified by single guide RNA (sgRNA). DSBs are subsequently repaired through non-homologous end joining (NHEJ) or homologous recombination (HR). Here, we demonstrate that introduced into mouse zygotes the capture of DNA sequences deriving from retrotransposons, DNA, mRNA and sgRNA. Among 93 mice analysed, 57 carried mutant alleles 22 them had long de novo insertion(s) DSB-introduced sites;...
Abstract RTL1 (also termed paternal expressed 11 ( PEG11 )) is considered the major imprinted gene responsible for placental and fetal/neonatal muscle defects that occur in Kagami–Ogata Temple syndromes (KOS14 TS14, respectively). However, it remains elusive whether also involved their neurological symptoms, such as behavioral developmental delay/intellectual disability, feeding difficulties, motor delay, delayed speech. Here, we demonstrate mouse protein widely central nervous system (CNS),...
Retrotransposon Gag-like (RTL) 8A, 8B and 8C are eutherian-specific genes derived from a certain retrovirus. They cluster as triplet of on the X chromosome, but their function remains unknown. Here, we demonstrate that Rtl8a Rtl8b play important roles in brain: double knockout (DKO) mice not only exhibit reduced social responses increased apathy-like behaviour, also become obese young adulthood, similar to patients with late Prader–Willi syndrome (PWS), neurodevelopmental genomic imprinting...
Background Mouse imprinted gene Peg3 encodes a large C2H2 type zinc finger protein with unique characteristics. knockout mice were found to show an impairment in maternal behaviour of the adult female. is located on proximal region chromosome 7 which syntenic long arm human 19. It has been reported that loss heterozygosity (LOH) 19q occurs frequently several glioma types. Results We isolated PEG3 cDNA. Both and mouse strongly expressed brain was localized nuclei both neurones glial cells. A...