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Genetic and genomic approaches to understand size and proportion
(2017-01-10)
The establishment of proper proportions during development is essential for the final form and function of an organism. While much is known concerning the regulation of proliferation and differentiation, how the relative ...
Of Xist and Dosage Compensation in Mammalian Development and Disease
(2017-01-10)
In mammals, equalized gene dosage between the sexes is ensured by a process called X chromosome inactivation (XCI). XCI, mediated by the long noncoding RNA Xist, initiates early in female embryogenesis, both in extraembryonic ...
Elucidating the Role of RasGAP Genes as Tumor Suppressors in Breast Cancer
(2017-05-10)
RAS genes are commonly mutated in human cancers and aberrant Ras activation drives tumorigenesis. However, RAS mutations are rare in breast cancer, despite frequent hyperactivation of Ras and its effectors, suggesting that ...
Genome-Wide Detection of Structural Variants and Signatures of Their Selection in Cancer
(2017-05-10)
Structural variants (SV) are a heterogeneous class of genomic variation that can have profound effects on the structure and function of the cancer genome. SVs are challenging to detect in short-read sequencing data through ...
Enhancer Function and Evolution in Drosophila Embryos
(2017-05-12)
As development proceeds from fertilization of a single egg cell, regulatory sequences called enhancers generate specific gene expression patterns in space and time. These patterns give rise to the many different cell types ...
Investigating the Role of ARID1A Inactivation in Colon Cancer Pathogenesis
(2017-05-12)
The genomics-era search for cancer-causing mutations has revealed epigenomic regulators, in particular SWI/SNF chromatin remodeling complexes, as major targets of mutation. Genes encoding SWI/SNF subunits are collectively ...
Elucidating Pathways of Classical and Alternative Pathways of Non-Homologous End-Joining in B-Lymphocytes
(2017-05-10)
DNA double-stranded breaks (DSBs), if not properly repaired, drive genomic instability. Accordingly, mammalian cells employ classical non-homologous end-joining (C-NHEJ) to repair DSBs generated throughout interphase, ...
Elucidating CTCF-Mediated Regulation of V(D)J Recombination at the Immunoglobulin Heavy Chain Locus
(2017-09-08)
Immunoglobulin heavy (IgH) and light (IgL) chains associate to form the B cell receptor (BCR), which is secreted as an antibody upon B cell activation. Each B cell generates and expresses a unique set of IgH and IgL variable ...