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Full-Text Articles in Molecular Biology

Exploring The Role Of Tet1 In Genomic Imprinting, Jennifer Myers Sanmiguel Jan 2018

Exploring The Role Of Tet1 In Genomic Imprinting, Jennifer Myers Sanmiguel

Publicly Accessible Penn Dissertations

DNA methylation is an essential epigenetic mark crucial for normal mammalian development. This modification controls the expression of a unique class of genes, designated as imprinted, which are expressed monoallelically and in a parent-of-origin-specific manner. Proper parental allele-specific DNA methylation at imprinting control regions (ICRs) is necessary for appropriate imprinting. Processes that deregulate DNA methylation of imprinted loci cause disease in humans. DNA methylation patterns dramatically change during mammalian development: first, the majority of the genome, with the exception of ICRs, is demethylated after fertilization, and subsequently undergoes genome-wide de novo DNA methylation. Secondly, after primordial germ cells are specified ...


Discovering Novel Hearing Loss Genes: Roles For Esrp1 And Gas2 In Inner Ear Development And Auditory Function, Alex Martin Rohacek Jan 2018

Discovering Novel Hearing Loss Genes: Roles For Esrp1 And Gas2 In Inner Ear Development And Auditory Function, Alex Martin Rohacek

Publicly Accessible Penn Dissertations

Hearing loss is the most common form of congenital birth defect, affecting an estimated

35 million children worldwide. To date, nearly 100 genes have been identified which

contribute to a deafness phenotype in humans, however, many cases remain in which a

causative mutation has yet to be found. In addition, the exact mechanism by which

hearing loss occurs in the presence of many of these mutations is still not understood.

This is due, in part, to the complex nature of the development and function of the

cochlear duct, the organ of hearing. The cochlea undergoes an intricate morphogenetic

development and ...