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Cell Culture Models Of Genetic Variation, Joshua T. Witten
Cell Culture Models Of Genetic Variation, Joshua T. Witten
Arts & Sciences Electronic Theses and Dissertations
Studying genetic variation presents a dilemma. While the genetic variation of greatest interest is that causing variation in traits and disease risk in natural populations, natural populations have characteristics that make them challenging to study. In this work, I have assessed the use of cell culture methods as a solution to some of these challenges. In particular, I studied genetic variation in the budding yeast Saccharomyces cerevisiae that was generated by selection in the lab as a model for natural genetic variation. I have found that even simplistic selection programs in the laboratory, including the use of chemical mutagenesis to …
A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency, Julia Brandeis Winston Honold
A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency, Julia Brandeis Winston Honold
All Theses and Dissertations (ETDs)
While a clear heritable risk has been observed for congenital heart disease, there is considerable variation in penetrance and presentation likely due to multiple genetic and environmental risk factors. To identify causative factors and interactions responsible for variability in heart development, greater than 4,200 hearts from Nkx2-5 heterozygous knockout mice have been collected and examined. Nkx2-5+/- mice in the inbred strain background C57Bl/6 frequently have atrial and ventricular septal defects. The incidences are substantially reduced in the Nkx2-5+/- progeny of first-generation: F1) outcrosses to the strains FVB/N or A/J. Defects recur in the second generation: F2) of the F1xF1 intercross …