MOLECULAR BIOLOGY OF STEROIDOGENIC P450 ENZYMES

描述（改编自申请人的摘要）：在目标1中， 申请人提出通过以下方法确定TNX基因的功能解剖学 表征其mRNA剪接模式，并鉴定其 各种替代的组织特异性帽位点。 在目标2中，这主要是新的， 将通过检测其生物学功能来研究该蛋白质的生物学功能。 表达模式及其对细胞粘附的影响。 将尝试 用于识别TNX缺失的患者。 目标3将描述 一个假定的肾上腺特异性增强子元件，位于距离CYP 21 6 kb处 以及与这种元素相互作用的核蛋白质。 最后， 另外的突变将被表征为引起3种肾上腺疾病： 类脂质肾上腺增生; 17，20裂解酶缺乏;和皮质酮 甲基氧化酶（醛固酮合成酶缺乏症）。 在以前的目标 有关高血压遗传学的意见书已被删除。

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.