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The
Genetic Control of Autoimmune Disease
The main research interest of our laboratory group is to examine the genetic
control of autoimmune disease to gain a better understanding of the mechanisms
by which immune tolerance is broken. Recently, we generated a mouse model
of a human autoimmune disease called APECED, which is classically manifested
by an autoimmune attack directed at multiple endocrine organs. This disease
is inherited in a monogenic autosomal recessive fashion and the causative
gene was identified and is called Aire (for autoimmune regulator). Aire
knockout mice, like their human counterparts, develop an autoimmune disease
that is targeted to multiple organs. Interestingly, we can ascribe one
of the primary defects in these mice to the thymus gland. Specifically,
it appears that Aire helps protect against autoimmunity by helping direct
the ectopic transcription of multiple self-antigens in thymic medullary
epithelial cells. Studies in our laboratory are ongoing on this interesting
model of autoimmune disease looking in greater detail how this defect
results in the breaking of immune tolerance and what genes may interact
with the Aire gene to protect against or worsen autoimmunity. In addition
to these ongoing studies, our laboratory is also interested in developing
other models of autoimmune disease by using transgenic, knockout, and
knock-in approaches.
Selected Publications:
M.S. Anderson, E. Venanzi, L. Klein, Z. Chen, S. Berzins, S. Turley, H.
von Boehmer, R. Bronson, A. Dierich, C. Benoist, and D. Mathis. “Projection
of an immunological self shadow within the thymus by the aire protein.”
(2002) Science 298, 1395-1401.
M.S. Anderson. “Autoimmune Endocrine Disease.” (2002) Current
Opinion in Immunology 14, 760-764.
Contact Information:
Email: manderso@diabetes.ucsf.edu
Phone: 415/502-8052
Address: Box , Room HSW 1112
The University of California, San Francisco, CA 94143, (415) 476-9000
Copyright 2003, The Regents of the University of California.
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