Project description:Intraindividual copy number variations (CNVs) happen post-zygotically, however their origin is largely unknown. They might appear either through aging or may resist following the common chromosome instability at the preimplantation stage. To uncover a part of this question we investigated fetal mosaicism and its origin. According to distribution pattern of frequent CNVs in derivatives of different germ layers, their origin is early development including preimplantation, whereas CNVs with low frequency occur in later stages. Both fetuses share CNVs, some in the same tissues and some other in different tissues. Functional analysis showed that altered genes were involved in embryonic development pathways. Each organ inherits CNVs with an unpredictable pattern due to extensive cell mixing/migration in embryonic development. Since we have found frequent intraindividual reciprocal CNVs as events with preimplantation origin in both fetuses, mosaic embryo transfer should be performed with caution because it may increase susceptibility to develop early/late onset diseases with genetic component even though recent reports seems to encourage IVF clinics for mosaic embryo transfer.
Project description:Prostate cancer is characterized as being histologically and molecularly heterogeneous. Additionally, epigenetic changes play an important role in regulating the progression of prostate cancer. However, epigenetic intraindividual heterogeneity is largely unknown in advanced prostate cancer. Hence, the epigenetic profiles of advanced prostate cancer, including autopsy cases, were investigated.
Project description:Chromosomal microarray analysis (CMA) in prenatal diagnosis detects copy number variations (CNVs) in many fetuses; however, the low penetrance and phenotypic diversity of CNVs complicate genetic counseling, resulting in limited understanding of intrauterine ultrasound phenotypes linked to CNVs. In a retrospective analysis of 25,000 cases at Fujian Maternal and Child Health Hospital, 18,000 pregnant women underwent SNP array testing (December 2015 to June 2023).
Project description:Prostate cancer is characterized as being histologically and molecularly heterogeneous. Additionally, epigenetic changes play an important role in regulating the progression of prostate cancer. However, epigenetic intraindividual heterogeneity is largely unknown in advanced prostate cancer. Hence, the epigenetic profiles of advanced prostate cancer, including autopsy cases, were investigated.
Project description:Prostate cancer is characterized as being histologically and molecularly heterogeneous. Additionally, epigenetic changes play an important role in regulating the progression of prostate cancer. However, epigenetic intraindividual heterogeneity is largely unknown in advanced prostate cancer. Hence, the epigenetic profiles of advanced prostate cancer, including autopsy cases, were investigated.
Project description:Prostate cancer is characterized as being histologically and molecularly heterogeneous. Additionally, epigenetic changes play an important role in regulating the progression of prostate cancer. However, epigenetic intraindividual heterogeneity is largely unknown in advanced prostate cancer. Hence, the epigenetic profiles of advanced prostate cancer, including autopsy cases, were investigated.
Project description:In mammals, chromatin marks at imprinted genes are asymmetrically inherited from each parent to control gene expression. Many genomic imprints are determined by differentially methylated regions (DMRs), but these have not been comprehensively mapped physically or functionally in mouse preimplantation embryos. We here address this by integrating transcriptomic and epigenomic approaches. Transcriptome analysis of blastocysts from genetically distinguishable crosses identified 106 genes with previously unknown parent-of-origin-specific allelic bias (nBsX genes), and 71 novel imprinted genes with parent-of-origin-specific expression with an allelic ratio of 70:30 or greater (nBiX genes). Uniparental expression of tested nBsX and nBiX transcripts disappeared soon after implantation.