|Faculty and Research
Huntington F. Willard, PhD
Nanaline H. Duke Professor
Research in our laboratory focuses on aspects of the molecular structure and function of human chromosomes and the human genome. The overall goal is to understand chromosomal mechanisms involved in gene control and/or implicated in genetic disorders. Mammalian X chromosome inactivation results in the cis-controlled inactivation of most, but not all, genes along the length of one of the two X chromosomes in females during embryogenesis. Studies include cloning and characterization of human genes that appear to "escape" inactivation, identification and cloning of the X inactivation center in mouse and humans that controls the cis effect and appears to be required for inactivation to occur, and mapping, cloning, and analysis of genes involved in X-linked disease.
Centromeres of mammalian chromosomes are structurally complex. The dominant class of DNA at human centromeres is a family of highly repeated, tandemly arrayed satellite DNA. Current efforts are directed at determining the cytological and molecular organization of long arrays of alpha satellite, which measure 300-5,000 kb in length, at examining aspects of centromere function in a series of abnormal X chromosomes found in patients, and at establishing functional tests of centromere function in cell culture systems, as a step towards assembly of artificial human chromosomes.