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Life Sciences

University of Connecticut

Theses/Dissertations

2011

Epigenetics

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Expression Analysis Of The Imprinted Gene Transketolase-Like 1 In Mouse And Human, Amy F. Friss May 2011

Expression Analysis Of The Imprinted Gene Transketolase-Like 1 In Mouse And Human, Amy F. Friss

Master's Theses

Genomic imprinting is an epigenetic phenomenon resulting in differential gene expression based on parental origin. Recently, transketolase-like 1 (TKTL1) has been identified as an X-linked imprinted gene. TKTL1 functions in the nonoxidative branch of the pentose phosphate pathway (PPP), which maintains glutathione in a reduced state through the generation of NADPH. Previous studies on transaldolase, the other critical enzyme in the nonoxidative branch of the PPP, suggest that TKTL1 may affect the cell’s ability to reduce glutathione. This study provides evidence that TKTL1 overexpression inhibits glutathione reduction. Intriguingly, aberrant glutathione levels are associated with autism. Additionally, studies involving …