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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 ...
Type 2 Diabetes-Associated Variants Disrupt Function of SLC16A11
(2017-04-20)
Type 2 Diabetes (T2D) affects individuals of Mexican and Latin American descent at twice the rate seen in populations of European descent. Recently a risk haplotype in SLC16A11 that explains ~20% of the increased T2D ...
Fitness Tradeoffs, Bimodality, and the Genetics of Natural Variation in Glucose-Galactose Sensing Across Saccharomyces Cerevisiae
(2017-01-26)
In nature, cells must constantly sense their environment and respond appropriately. These cellular “decisions” are implemented by molecular components that can mutate and evolve. How do mutations lead to changes in cellular ...
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 ...