Purpose
Turner syndrome (TS) is a rare disease in females, who usually lack one X chromosome. We aim to determine the genetic mechanisms underlying the development of TS. We will study human material from different tissues as well as during different stages of development. We will use a Zebrafish model to study candidate genes further.
Objectives
• Characterize both the epigenome (the addition of methyl groups to part of the DNA) and the transcriptome (RNA) of relevant tissues through development.
• Characterize similarities and differences in epigenetic programming and RNA expression between TS and controls.
• Evaluate candidate genes in a Zebrafish model.
Background
The molecular basis for Turner syndrome remains an enigma. Results from our lab show that the global epigenetic profile of Turner syndrome is profoundly changed. We hypothesize that different genetic regulatory mechanisms will be involved in expression changes underlying the characteristic traits of Turner syndrome.
