Study: JGAS00000000162

Identifier

AccessionJGAS00000000162

Description

TitleWhole exome sequencing of familial MDS, Two patients
AbstractAlthough 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 Type
Study TypeExome Sequencing

Publication

PubMed ID30696947
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0165
Registration date2018-12-13
Submitting organizationThe University of Tokyo
Principal InvestigatorMineo Kurokawa
Molecular Data TypeWhole exome sequencing
PlatformHiSeq 2500
VendorIllumina
Comment
Primary PhenotypeMyelodysplasia (HP:0002863)
IDC-10 Disease ClassificationMeylodysplastic syndrome (D46)
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000240 Bam of familial MDS, Two patients Exome sequencing 4 JGAP00000000001