A5073747659- CRISPR and Genetic Engineering
- Dementia and Cognitive Impairment Research
- Animal Genetics and Reproduction
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Aging and Gerontology Research
- RNA and protein synthesis mechanisms
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Carcinogens and Genotoxicity Assessment
- RNA Research and Splicing
- Genetics, Aging, and Longevity in Model Organisms
- Frailty in Older Adults
- Receptor Mechanisms and Signaling
- Pluripotent Stem Cells Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Phylogenetic Studies
- Health disparities and outcomes
- Ubiquitin and proteasome pathways
- Molecular Biology Techniques and Applications
- Genetic Syndromes and Imprinting
- Cancer-related Molecular Pathways
- Hedgehog Signaling Pathway Studies
- Nutrition and Health in Aging
Osaka University of Human Sciences
2016-2025
Osaka University
2013-2025
RIKEN BioResource Research Center
2011-2024
Tokai University
1990-2022
RIKEN Center for Integrative Medical Sciences
1999-2020
RIKEN
2010-2018
Craigavon Area Hospital
2018
Institute of Genetics
2008
Nippon Soken (Japan)
2008
The Graduate University for Advanced Studies, SOKENDAI
2008
The mouse has been widely used as a model organism for studying human diseases and evaluating drug safety efficacy. Many effects exhibit tissue specificity that may be reflected by tissue-specific gene-expression profiles. Here we construct comprehensive transcriptomic BodyMap across 17 tissues of six-weeks old C57BL/6JJcl mice using RNA-seq. We find different expression patterns between protein-coding non-coding genes. Liver expressed the least complex transcriptomes, is, smallest number...
Complementary DNA clones from the pink-eyed dilution ( p ) locus of mouse chromosome 7 were isolated murine melanoma and melanocyte libraries. The transcript this gene is missing or altered in six independent mutant alleles locus, suggesting that disruption results hypopigmentation phenotype defines alleles. Characterization human homolog revealed it localized to 15 at q11.2-q12, a region associated with Prader-Willi Angelman syndromes, expression may be responsible for exhibited by certain...
Background. Centenarians are sometimes said to be representative of lifelong healthy aging. Whether they are, in fact, examples aging remains a subject debate. The existence heterogeneity functional status has been reported repeatedly previous studies centenarians. However, there is as yet no standardized classification system with which describe their phenotype.
Abstract Spontaneous germline mutations generate genetic diversity in populations of sexually reproductive organisms and are thus regarded as a driving force evolution. However, the cause mechanism remain unclear. 8-oxoguanine (8-oxoG) is candidate molecule that causes mutations, because it makes DNA more prone to mutation constantly generated by reactive oxygen species vivo . We show here endogenous 8-oxoG caused de novo spontaneous heritable G T mice, which occurred at different stages...
Abnormal N -methyl- d -aspartate receptor (NMDAR) function has been implicated in the pathophysiology of schizophrenia. -serine is an important NMDAR modulator, and to elucidate role synthesis enzyme serine racemase (Srr) schizophrenia, we identified characterized mice with ENU-induced mutation that results a complete loss Srr activity dramatically reduced levels. Mutant displayed behaviors relevant including impairments prepulse inhibition, sociability spatial discrimination. Behavioral...
Article15 May 2018Open Access Source DataTransparent process Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics amyotrophic lateral sclerosis Pietro Fratta Corresponding Author [email protected] orcid.org/0000-0002-8762-8188 UCL Institute Neurology, MRC Centre for Neuromuscular Disease, London, UK Search more papers by this author Prasanth Sivakumar Jack Humphrey Genetics Institute, Kitty Lo Thomas Ricketts Mammalian Unit, Harwell, Hugo Oliveira Jose...
DNA sequences associated with the mouse pink-eyed unstable mutation were identified in absence of closely linked molecular markers and without prior knowledge encoded gene product. This was accomplished by "genome scanning," a technique which high-resolution Southern blots genomic DNAs hybridized to dispersed moderately repetitive sequence. In this assay, distinguished from wild-type revertant mice enhanced hybridization one several hundred resolved fragments. The fragment showing cloned...
Abstract Background Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation precision medicine and a complicated process in which each step affects variant call quality. Systematically assessing reproducibility WGS impact needed understanding improving quality from WGS. Results To dissect factors involved WGS, we sequence triplicates eight DNA samples representing two populations on three short-read platforms using library kits six labs...
The mouse pink-eyed unstable (p(un)) mutation, affecting coat color, exhibits one of the highest reported reversion frequencies any mammalian mutation and is associated with a duplication genomic DNA at p locus. In this study, clones containing boundaries p(un) were isolated characterized. structure these sequences their wild-type revertant counterparts analyzed by restriction mapping, PCR product analysis, sequence pulsed-field gel electrophoresis. from was distinguished head-to-tail tandem...
Amelogenesis imperfecta (AI) is a group of commonly inherited defects dental enamel formation, which exhibits marked genetic and clinical heterogeneity. The basis this heterogeneity still poorly understood. Enamelin, the affected gene product in one form AI (AIH2), an extracellular matrix protein that components enamel. We isolated three ENU-induced dominant mouse mutations, M100395, M100514 M100521, caused AI-like phenotypes incisors molars individuals. Linkage analyses mapped each...
The associations among cognitive function, hypertension, and dyslipidemia in older adults are controversial. Therefore, we investigated the decline, dyslipidemia, their combination community-dwelling people 70s, 80s, 90s long-term observational Septuagenarians, Octogenarians, Nonagenarians, Investigation with Centenarians (SONIC) study. We administered Montreal Cognitive Assessment Japanese version (MoCA-J) by trained geriatricians psychologists, conducted blood testing pressure (BP)...
Recessive mutant alleles at the pink-eyed dilution (p) locus on mouse chromosome 7 reduce pigmentation of both coat and eyes. Here we describe properties complementation interactions 10 p alleles, including 6 not previously reported. Several that cause additional phenotypes affecting development, reproduction, behavior were shown to be deletions by using DNA probes derived from region. An alignment functional marker-defined units is proposed, giving a linear map orders least four loci. The...
Growth and differentiation factor 5 (GDF5) has been implicated in chondrogenesis joint formation, an association of GDF5 osteoarthritis (OA) reported recently. However, the vivo function remains mostly unclarified. Although various human mutations their phenotypic consequences have described, only loss-of-function that cause brachypodism (shortening ankylosis digits) mice. Here, we report a new Gdf5 allele derived from large-scale N -ethyl- -nitrosourea mutagenesis screen. This carries amino...
Abstract CRISPR-Cas9 is efficient enough to knock out both alleles directly by introducing out-of-frame mutations. We succeeded in making biallelic on-target frameshift mutations of the endogenous Gli3 gene; however, GLI3 protein was expressed all six established cell lines carrying homozygous developed a dual-tagged expression vector and proved that illegitimate translation (ITL) cause unexpected expression. Thus, gene must be examined even if designed sequences are introduced genome...