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Stanley Gartler, Ph.D.

Professor Emeritus of Medicine and Genome Sciences
Research Affiliate, Center on Human Development and Disability
gartler@u.washington.edu
206-543-1775
University of Washington, Box 357730
Seattle, WA 98195-7730

Dr. Gartler's research focuses on mammalian somatic cell genetics with emphasis on mechanisms of X-chromosome inactivation. He is particularly interested in molecular features of the process of X-inactivation and related processes. There may exist a special class of genes requiring late replication for proper functioning. Gartler and colleagues have determined that the region of delayed replication in Fragile X syndrome extends over several replicons in some cases, resulting perhaps from a spreading of late replication into the FMR1 region. This spreading may be similar to the normal spreading of late replication that occurs during X-chromosome inactivation in early female development. The lab's most recent work on X inactivation involves a study of these phenomena in triploids.

Gartler's lab has become involved in the study of the ICF syndrome (immunodeficiency, centromeric decondensation, and facial anomalies), which exhibits an abnormal DNA methylation pattern. The fact that DNMT3B, the gene that underlies ICF syndrome, preferentially methylates heterochromatic regions, like the inactive X chromosome, suggests that multiple methyltransferases are important for the development of an appropriately methylated genome, making ICF syndrome a natural model for studying the effects of hypomethylation on genes in heterochromatic regions. The promoters of possibly all genes subject to X inactivation are hypomethylated in ICF cells. Most of these genes, however, remain inactivated. Reactivation requires advanced replication timing in addition to demethylation. The interaction of demethylation and replication timing remains an important area of investigation. Mutations in DNMT3B have led to significant disturbances in the X inactivation system.

CHDD Outlook article

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@u.washington.edu