Dr. Disteche studies the structure, function, and epigenetic regulation of the sex chromosomes. Studies in the Disteche laboratory address the basis of sex differences caused by the fundamental difference between the sex chromosomes in males (XY) and females (XX). She and her lab focus on X inactivation, a process which silences one of the two X chromosomes in females, and on genes that escape regulation by X-inactivation, such as KDM5C and KDM6A. Mutations in these genes have been implicated in X-linked intellectual disabilities. Distecheʼs work is relevant to the study of sex chromosome aneuploidies, for example Turner Syndrome, a developmental disorder in females who are missing part or all of one X chromosome, which can cause disabilities in some types of non-verbal learning, and Klinefelter syndrome caused by an extra X chromosome in males, which is also associated with some intellectual disabilities.
Christine Disteche's UW Molecular and Cellular Biology webpage
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