Expression Analysis of the Imprinted Gene Transketolase-like 1 in Mouse and Human

<p>Genomic imprinting is an epigenetic phenomenon resulting in differential gene expression based on parental origin. Recently, <em>transketolase-like 1</em> (<em>TKTL1</em>) 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 <em>TKTL1</em> overexpression inhibits glutathione reduction. Intriguingly, aberrant glutathione levels are associated with autism. Additionally, studies involving Turner syndrome females found that differences in social behavior could distinguish females expressing the maternal X chromosome from those expressing the paternal X chromosome. This led researchers to hypothesize the influence of an X-linked imprinted gene in autism. Accordingly, this study compared <em>TKTL1</em> expression levels in autistic patients versus their unaffected siblings. The results suggest that further studies are required.</p>

Name thesis:degree_name

Master of Science

Discipline thesis:degree_discipline

Genetics and Genomics

Year dc:date.available

2011

Author dc:creator

• Friss, Amy F

Contributors dc:contributor

• Rachel O'Neill; Barbara Mellone
• Michael O'Neill

• Genomic Imprinting
• Epigenetics
• Transketolase-like 1
• Pentose Phosphate Pathway
• Autism
• Overexpression

Repository record dc:identifier

https://digitalcommons.lib.uconn.edu/gs_theses/90

OAI identifier oai:identifier

oai:digitalcommons.lib.uconn.edu:gs_theses-1107