We are studying on the structure and function of the human genes using molecular and biochemical techniques to define the molecular pathogenesis of hereditary diseases as well as cancer. Our researches include determination of chromosomal location of an unidentified disease gene by familial linkage analyses and other techniques (mapping), identification of responsible genes by positional cloning strategies and/or by candidate gene approaches, detection of mutations within the disease gene in patients, and analyses of expression regulation of the gene using experimental systems. We currently focus on neurodegenerative diseases, congenital anomalies of organs and tumor suppresser genes for childhood tumors like Wilms' tumor and neuroblastoma. We are also engaged in a human genome project and in researches related to genome imprinting, apoptosis and gene therapy.
We identified the gene responsible for a neurodegenerative disorder, dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA gene is situated at chromosome band 12p13.31 and contains CAG repeats encoding polyglutamine. The repeat size is highly polymorphic in the normal population (7-23 repeats) and expanded in the DRPLA patients (49-75 repeats), where the number of repeats is inversely correlated to age of onset. Thus, DRPLA is one of the triplet repeat disorders like Huntington's disease, myotonic dystrophy and fragile X syndromes.
Masao Yamada, PhD. Director of Department
Toshiyuki Miyashita, MD. PhD. Head of Laboratory
Keiko Tadokoro, PhD.
others
1) Structures and functions of human genes for elucidation of genetic diseases
1-1) DRPLA, a trinucleotide repeat disorder
1-2) subtle alternative splicing
1-3) PAX6 and eye malformation
1-4) DNA polymorphism
1-5) interaction of transcription factors
2) Investigation of apoptosis regulation
2-1) Identification of glucocorticoid target genes
2-2) Basic study on caspases
3) Analysis of PTCH, the responsible gene for nevoid basal cell carcinoma syndrome
Publication by Department of Genetics
Supplemental data for our publications
Report of a group study, "Molecular Studies for Congenital Anomalies" supported by the Grant for "Pediatric Research" from the Ministry of Health and Welfare, Japan. Period: 1997-1999 Japanese fiscal year
Report (1999) of a project, "Identification
of genes and mutations for genetic diseases and developmental abnormalities,"
in a group study for "Genome Functions and Molecular Mechanism in Embryogenesis and
Development" in the "Organized Combination Research System" supported by the
Science and Technology Agency, Japan.
Slide
presentation (MicroSoft-PowerPoint) used in a report meeting in 2003
Slide
presentation (MicroSoft-PowerPoint) used in a report meeting in 1999
Pamphlet showing "National Center for Child Health and Development" (ScanPDF 2.7MB) including Hospital and our Research Institute.
to contact us, mail to myamada(a)nch.go.jp Please change (a) to @
Department of Genetics, National Research Institute for Child Health and Development
English TOP page of our Research Institute
