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 i n the previous submission on genetics of hypertension has been deleted.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Research Project (R01)
Project #
5R01DK037922-11
Application #
2634207
Study Section
Endocrinology Study Section (END)
Program Officer
Akolkar, Beena
Project Start
1987-05-01
Project End
2000-12-31
Budget Start
1998-01-15
Budget End
1998-12-31
Support Year
11
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of California San Francisco
Department
Pediatrics
Type
Schools of Medicine
DUNS #
073133571
City
San Francisco
State
CA
Country
United States
Zip Code
94143

  Publications

Nebert, Daniel W; Wikvall, Kjell; Miller, Walter L (2013) Human cytochromes P450 in health and disease. Philos Trans R Soc Lond B Biol Sci 368:20120431
Tee, Meng Kian; Abramsohn, Michal; Loewenthal, Neta et al. (2013) Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 98:713-20
Gucev, Zoran S; Tee, Meng Kian; Chitayat, David et al. (2013) Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. J Pediatr 162:819-22
Tee, Meng Kian; Miller, Walter L (2013) Phosphorylation of human cytochrome P450c17 by p38? selectively increases 17,20 lyase activity and androgen biosynthesis. J Biol Chem 288:23903-13
Biason-Lauber, Anna; Miller, Walter L; Pandey, Amit V et al. (2013) Of marsupials and men: ""Backdoor"" dihydrotestosterone synthesis in male sexual differentiation. Mol Cell Endocrinol 371:124-32
Schonemann, Marcus D; Muench, Marcus O; Tee, Meng Kian et al. (2012) Expression of P450c17 in the human fetal nervous system. Endocrinology 153:2494-505
Miller, Walter L (2012) The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab 97:59-67
Miller, Walter L; Auchus, Richard J (2011) The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 32:81-151
Miller, Walter L (2011) Role of mitochondria in steroidogenesis. Endocr Dev 20:1-19
Ghayee, Hans K; Rege, Juilee; Watumull, Lori M et al. (2011) Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome. J Clin Endocrinol Metab 96:E243-50

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