Identifying the genes causing Turner syndrome (45,XO) and Klinefelter syndrome (47,XXY)

Project description

Differences of sex development include sex chromosome aneuploidies such as Turner syndrome (TS) and Klinefelter syndrome (KS). Women with TS lack one X chromosome, leading to various health issues, including growth impairment and infertility. The X chromosome carries about 900 genes and while most of these genes on the second X chromosome are inactivated, about 15% remain active and are therefore candidate genes causing TS. Men with KS carry an additional X chromosome often leading to neurocognitive challenges and infertility. We have developed rat models for TS and KS and, using transcriptomic approaches, we will identify when expression of X and Y genes and downstream targets are first affected in various organs and tissues. We will integrate our data with patients’ data obtained from international collaborators.