ddbj > jga-study > JGAS00000000162
identifier JGAS00000000162
type jga-study
organism Homo sapiens
dbXrefs JGAD00000000240

PUBLICATIONS : {PUBLICATION={DB_TYPE=PUBMED, id=30696947, status=published}}

DESCRIPTOR : {STUDY_TITLE=Whole exome sequencing of familial MDS, Two patients, STUDY_ABSTRACT=Although several causal genes of familial myelodysplastic syndromes (MDS) have been identified, the genetic landscape and the molecular pathogenesis are not totally understood. To explore novel driver genes and their pathogenetic significance, we performed whole exome sequence analysis of two individuals from a familial MDS pedigree and several candidate single-nucleotide variants were identified. Knockdown screening revealed that downregulation of a candidate gene enhanced colony forming capacity of primary murine bone marrow (BM) stem/progenitor cells. Our results indicate that a familial MDS-associated germline mutation in the candidate gene induces accumulation of DNA double-strand breaks, possibly through impaired PCNA polyubiquitination., STUDY_TYPES={STUDY_TYPE={existing_study_type=Exome Sequencing}}}

center_name : Individual

accession : JGAS00000000162

STUDY_ATTRIBUTES : {STUDY_ATTRIBUTE=[{TAG=NBDC Number, VALUE=hum0165}, {TAG=Registration date, VALUE=2018-12-13}, {TAG=Submitting organization, VALUE=The University of Tokyo}, {TAG=Principal Investigator, VALUE=Mineo Kurokawa}, {TAG=Molecular Data Type, VALUE=Whole exome sequencing}, {TAG=Platform, VALUE=HiSeq 2500}, {TAG=Vendor, VALUE=Illumina}, {TAG=Comment, VALUE=}, {TAG=Primary Phenotype, VALUE=Myelodysplasia (HP:0002863)}, {TAG=IDC-10 Disease Classification, VALUE=Meylodysplastic syndrome (D46)}]}

distribution JSON JSON-LD
dateCreated 2018-12-18T07:00:19+0000
dateModified 2019-05-07T03:00:49+0000
datePublished 2019-05-07T17:30:44+0000