International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 160 - ADRENOCORTICAL DYSPLASIA (acd) AS A CANDIDATE FOR HUMAN CONGENITAL ADRENAL HYPOPLASIA

Dr. Catherine Keegan
University of Michigan
5552 MSRB II
1150 W. Medical Center Dr.
Ann Arbor
48109-0678
U.S.A.

Co-Authors: 1)Beamer, WG, 2)Hammer, GD
Institutions: 1)The Jackson Laboratory, 2) Dept. of Internal Medicine, Division of Endocrinology & Metabolism, University of Michigan

The adrenal cortex is a critical component of the hypothalamic-pituitary-adrenal axis which coordinates the mammalian stress response.  The formation of the adrenal cortex in humans is notable for the presence of two discrete zones, the fetal zone which regresses soon after birth and the definitive zone which gives rise to the classic three steroidogenic zones of the cortex.  In the mouse, the X-zone (analogous to the fetal zone) regresses at puberty in the male and after the first pregnancy in the female.  The phenotype of the autosomal recessive Adrenocortical Dysplasia (acd) mouse is strikingly similar to human Miniature Adult congenital adrenal hypoplasia, lacking an adrenocortical fetal zone and possessing a dysfunctional definitive zone. Serum corticosterone levels are significantly lower in female mutants, while ACTH levels are elevated, consistent with a primary adrenal defect.  Our goal is to map and positionally clone the acd gene.  Acd was previously mapped to mouse Chromosome 8.   Utilizing 140 F2 mutant (acd/acd) animals generated from a DW/J x CAST/Ei intercross, we have refined the genetic locus of acd to a 2 cM region.  Studies are in progress to narrow this interval further and construct a physical map of this region.  We hypothesize that this gene is an important component of the adrenal developmental cascade and will shed insight into the pathophysiology of human congenital adrenal hypoplasia.


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