MOLECULAR BIOLOGY OF STEROIDOGENIC P450 ENZYMES

University Of California San Francisco, San Francisco CA

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Abstract

DESCRIPTION (Adapted from the applicant's abstract): In Aim 1, the applicant proposes to determine the functional anatomy of the TNX gene by characterizing its patterns of alternate mRNA splicing and identifying its various alternate tissue specific cap sites. In Aim 2, which is mostly new, the biological function of this protein will be studied by examining its pattern of expression and its effects on cellular adhesion. An attempt will be made to identify patients with deletions of TNX. Aim 3 will characterize a putative adrenal specific enhancer element located 6 kb away from CYP21 and the nuclear proteins that interact with this element. Finally, additional mutations will be characterized that cause 3 adrenal disorders: lipoid adrenal hyperplasia; 17,20 lyase deficiency; and corticosterone methyloxidase (aldosterone synthase deficiency). An Aim in the previous submission on genetics of hypertension has been deleted.