MOLECULAR BIOLOGY OF STEROIDOGENIC P450 ENZYMES

描述(改编自申请人的摘要)：在目标1中， 申请人建议通过以下方法确定Tnx基因的功能解剖 表征其交替的mRNA剪接模式并鉴定其 各种交替的组织特异性帽状部位。在AIM 2中，它大多是新的， 这种蛋白质的生物学功能将通过检测其 表达模式及其对细胞黏附的影响。一次尝试将 被用来识别TnX缺失的患者。《目标3》将描述 距离细胞色素P21 6kb的肾上腺特异性增强子元件 以及与这种元素相互作用的核蛋白。最后， 其他突变将被描述为导致3种肾上腺疾病： 类脂肾上腺增生症；17，20裂解酶缺乏症；皮质酮 羟甲基氧化酶(醛固酮合成酶缺乏症)。上一年的目标 关于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.