A5013987388- Genomics and Chromatin Dynamics
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Chromosomal and Genetic Variations
- Plant Reproductive Biology
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
Albert Einstein College of Medicine
2019-2025
New York University
2017-2018
Significance Epigenetic modifications, such as histone methylation, are crucial for gene expression, chromatin organization, and cellular identity. These modifications can be faithfully transmitted to daughter cells during the cell cycle. How epigenetic marks inherited through DNA replication remains poorly understood. Histone hypoacetylation H3 lysine 9 (H3K9) methylation two conserved of heterochromatin, a transcriptionally repressive form chromatin. Here we demonstrate that small...
Intron removal from pre-mRNA is catalyzed by the spliceosome, which comprises 5 snRNPs containing small nuclear RNAs (snRNAs). U2 snRNA makes critical RNA-RNA and RNA-protein contacts throughout splicing cycle. Mutations in snRNA, particularly at position C28, have been linked to cancers. To study gene expression changes mediated mutated snRNAs, U2-2 C28 mutants, knockout (KO), overexpression (OE) cell lines were constructed followed RNA sequencing. We observed significant over 4,000...
Centromere is a specialized chromatin domain that plays vital role in chromosome segregation. In most eukaryotes, centromere surrounded by the epigenetically distinct heterochromatin domain. Heterochromatin has been shown to contribute function, but precise of specification remains elusive. Centromeres including fission yeast (Schizosaccharomyces pombe), are defined histone H3 (H3) variant CENP-A. contrast, budding Saccharomyces cerevisiae genetically-defined point centromeres. The...
Summary Substantial numbers of somatic mutations have been found to accumulate with age in different human tissues. Clonal cellular amplification some these can cause cancer and other diseases. However, it is as yet unclear if what extent an increased burden random affect function without clonal amplification. We tested this cell culture, which avoids the limitation that mutation vivo typically leads cancer. performed single-cell whole-genome sequencing primary fibroblasts from DNA mismatch...
Abstract DNA Mismatch repair (MMR) deficiency is a major cause of hereditary non-polyposis colorectal cancer, and also associated with increased risk several other cancers. This generally ascribed to the role MMR in avoiding mutations by correcting replication errors. In knockout mice very high frequencies somatic mutations, up until 100-fold background, have been reported. However, these results obtained using bacterial reporter transgenes, which are not representative for genome overall,...