A5080018476- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Genetic Syndromes and Imprinting
- Animal Genetics and Reproduction
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- Genetics and Neurodevelopmental Disorders
- Pluripotent Stem Cells Research
- RNA Research and Splicing
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Gender Studies in Language
- Reproductive Biology and Fertility
- Mitochondrial Function and Pathology
- interferon and immune responses
- Nuclear Structure and Function
- Agricultural Practices and Plant Genetics
- Microtubule and mitosis dynamics
- Cytokine Signaling Pathways and Interactions
- Advanced biosensing and bioanalysis techniques
- Cancer-related gene regulation
- Silkworms and Sericulture Research
- Skin and Cellular Biology Research
Kindai University
2014-2024
Kyushu University
2009-2018
Google (United States)
2017
Research Organization of Information and Systems
2004-2011
National Institute of Genetics
2001-2011
The Graduate University for Advanced Studies, SOKENDAI
2001-2008
Japan Science and Technology Agency
2004-2007
Massachusetts General Hospital
2004
Harvard University
1999-2004
University of Cambridge
1998-2001
Genomic imprinting causes parental origin-specific monoallelic gene expression through differential DNA methylation established in the germ line. However, mechanisms underlying how specific sequences are selectively methylated not fully understood. We have found that components of PIWI-interacting RNA (piRNA) pathway required for de novo differentially region (DMR) imprinted mouse Rasgrf1 locus, but other paternally loci. A retrotransposon sequence within a noncoding spanning DMR was...
In mammals, X-chromosome inactivation is imprinted in the extra-embryonic lineages with paternal X chromosome being preferentially inactivated. this study, we investigate role of Tsix, antisense transcript from Xist locus, regulation expression and X-inactivation. We show that Tsix transcribed two putative promoters its transcripts are processed. Expression first detected blastocysts only maternal allele transcribed. The persists tissues after implantation, but erased embryonic tissues. To...
Cloning mammals by means of somatic cell nuclear transfer (SCNT) is highly inefficient because erroneous reprogramming the donor genome. Reprogramming errors appear to arise randomly, but nature nonrandom, SCNT-specific remains elusive. We found that Xist, a noncoding RNA inactivates one two X chromosomes in females, was ectopically expressed from active (Xa) chromosome cloned mouse embryos both sexes. Deletion Xist on Xa showed normal global gene expression and resulted about an eight-...
We have isolated a novel mouse gene (Gtl2) from the site of trap integration (Gtl2lacZ) that gave rise to developmentally regulated lacZ expression, and dominant parental-origin–dependent phenotype. Heterozygous Gtl2lacZ mice inherited transgene father showed proportionate dwarfism phenotype, whereas penetrance expressivity phenotype was strongly reduced in mother. Gtl2 expression is highly similar β-galactosidase staining pattern, down-regulated but not abolished carrying insertion. In...
Expression of Xist, which triggers X inactivation, is negatively regulated in cis by an antisense gene, Tsix, transcribed along the entire Xist gene. We recently demonstrated that Tsix silences through modification chromatin structure promoter region. This finding prompted us to investigate role transcription across Tsix-mediated silencing. Here, we prematurely terminated before and addressed its effect on silencing mouse embryos. found although 93% region encoding was transcribed,...
X-inactivation in female mammals is triggered by the association of non-coding Xist RNA cis with X chromosome. Although it has been suggested that A-repeat located proximal part required for chromosomal silencing ES cells, its role mouse not yet addressed. Here, we deleted and studied effects on during embryogenesis. The deletion,when paternally transmitted, caused a failure imprinted extraembryonic tissues, demonstrating essential embryo. Unexpectedly, was lack rather than defect function...
ICF syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial anomalies. It caused mutations in de novo DNA methyltransferase gene, DNMT3B. We here report the first three Japanese cases of from two unrelated families. All patients had typical dysmorphism immunoglobulin A (IgA) deficiency, but none them apparent mental retardation. Cytogenetic analysis peripheral blood lymphocytes showed chromosomal abnormalities, including...
Xist (X-inactive specific transcript) plays a crucial role in X-inactivation. This non-coding RNA becomes upregulated on the X chromosome that is to be inactivated upon differentiation. Previous studies have revealed although maintenance-type DNA methylation not essential for X-inactivation occur, it required stable repression of differentiated cells. However, unknown whether differential de novo at promoter, which mediated by Dnmt3a and/or Dnmt3b, cause or consequence monoallelic expression...
X chromosome inactivation is the mechanism used in mammals to achieve dosage compensation of X-linked genes XX females relative XY males. Chromosome silencing triggered cis by expression non-coding RNA Xist. As such, correct regulation Xist gene promoter required establish appropriate activity both males and females. Studies date have demonstrated co-transcription an antisense Tsix low-level sense transcription prior onset inactivation. The balance important determining probability that a...
DNA methylation and histone H4 acetylation play a role in gene regulation by modulating the structure of chromatin. Recently, these two epigenetic modifications have dynamically physically been linked. Evidence suggests that both are involved regulating imprinted genes - subset whose expression depends on their parental origin. Using immunoprecipitation assays, we investigate relationship between methylation, well-characterised Igf2-H19 domain mouse chromosome 7. A systematic regional...
Abstract Chromosome-wide late replication is an enigmatic hallmark of the inactive X chromosome (Xi). How it established and what represents remains obscure. By single-cell DNA sequencing, here we show that entire Xi reorganized to replicate rapidly uniformly in S-phase during X-chromosome inactivation (XCI), reflecting its relatively uniform structure revealed by 4C-seq. Despite this uniformity, only a subset became earlier replicating SmcHD1-mutant cells. In mutant, these domains protruded...
Abstract The transcriptional imbalance due to the difference in number of X chromosomes between male and female mammals is remedied through X-chromosome inactivation, epigenetic silencing one two females. X-linked Xist long non-coding RNA functions as an inactivation master regulator; selectively upregulated from prospective inactive chromosome required cis for inactivation. Here we discover antisense RNA, XistAR ( A ctivating R NA), which encoded within exon 1 mouse gene transcribed only...
CENP-U (CENP-50) is a component of the CENP-O complex, which includes CENP-O, CENP-P, CENP-Q, CENP-R, and constitutively localized at kinetochores throughout cell cycle in vertebrates. Although deficiency results some mitotic defects chicken DT40 cells, CENP-U-deficient cells are viable. To examine functional roles an organism-dependent context, we generated mice. The mice died during early embryogenesis (approximately E7.5). Thus, conditional mouse ES were to analyze phenotypes level. When...
Xist RNA, which is responsible for X inactivation, a key epigenetic player in the embryogenesis of female mammals. Of several repeats conserved A-repeat has been shown to be essential its silencing function differentiating embryonic stem cells. Here, we introduced new allele into mouse that produces mutated RNA lacking (XistCAGΔ5' ). XistCAGΔ5' expressed embryo coated chromosome but failed silence it. Although imprinted inactivation was substantially compromised upon paternal transmission,...
ABSTRACT Stable silencing of the inactive X chromosome (Xi) in female mammals is crucial for development embryos and their postnatal health. SmcHD1 essential stable Xi, its functional deficiency results derepression many X-inactivated genes. Although has been suggested to play an important role formation higher-order chromatin structure underlying mechanism largely unknown. Here, we explore epigenetic state Xi SmcHD1-deficient epiblast stem cells mouse embryonic fibroblasts comparison with...