Scazzocchio C, Sdrin N, Ong G
Genetics. 1982 Feb;100(2):185-208. doi: 10.1093/genetics/100.2.185.
In this paper we characterize genetically a positive eukaryotic regulatory gene: the uaY gene of the ascomycete Aspergillus nidulans. Several steps in the uptake and degradation of purines are under the control of the uaY gene (summarized in Scazzocchio and Gorton 1977). In the present paper 12 uaY-mutations are characterized with respect to their inducibility for adenine deaminase, xanthine dehydrogenase (purine hydroxylase I) and urate oxidase and by the absence of the uric acid-xanthine permease scored in vivo by resistance to 2-thiouric acid. While 10 mutations are uniformly unleaky, two others are almost wild type for the induction of urate oxidase. A fine structure map of the uaY gene shows that the two "leaky" mutations are not clustered. The fine structure mapping unambiguously positions six uaY alleles and provides preliminary but interesting trends regarding the pattern of gene conversion in the uaY gene. The enzyme levels in all uaY-/uaY+ heterozygous diploids are intermediate between the corresponding uaY-/uaY- and uaY+/uaY+ homozygous diploids, suggesting that one functional copy of the uaY gene is able to mediate the complete induction of only one set of structural genes. No complementation was found between any two uaY- alleles. This establishes that the mutations showing either of the phenotypes are alleles in the same gene; it fails to provide evidence for intracistronic complementation. A mutation, oxpA5, causes resistance to the xanthine analogue oxypurinol (4,6-dihydroxypyrazolo-(3, 4-d)-pyrimidine) and partial constitutivity of adenine deaminase, xanthine dehydrogenase (purine hydroxylase I) and urate oxidase. The constitutive phenotype is suppressed by mutations, blocking the synthesis of intracellular inducers. The mutation is recessive and complements fully with the 11 uaY- mutations tested. It maps to the left of all 12 uaY mutations to which it has been crossed. The data indicate that both the resistance and constitutivity arise from one mutational event in a gene, oxpA, different from uaY and possibly adjacent to it. We propose that the oxpA gene codes for a protein involved in limiting the flow of inducers into the cell nucleus. Thus oxpA and uaY constitute a regulatory gene cluster, indicating that uaY is the regulatory gene.
在本文中,我们从遗传学角度对一个正向真核调节基因进行了表征:即子囊菌构巢曲霉的uaY基因。嘌呤摄取和降解过程中的几个步骤受uaY基因的控制(总结于斯卡佐基奥和戈顿,1977年)。在本文中,对12个uaY突变体进行了表征,涉及它们对腺嘌呤脱氨酶、黄嘌呤脱氢酶(嘌呤羟化酶I)和尿酸氧化酶的诱导能力,以及通过对2-硫代尿酸的抗性在体内测定尿酸-黄嘌呤通透酶的缺失情况。虽然10个突变体均为无渗漏型,但另外两个突变体在诱导尿酸氧化酶方面几乎为野生型。uaY基因的精细结构图谱表明,这两个“渗漏”突变并不聚集。精细结构图谱明确了6个uaY等位基因的位置,并提供了关于uaY基因中基因转换模式的初步但有趣的趋势。所有uaY-/uaY+杂合二倍体中的酶水平介于相应的uaY-/uaY-和uaY+/uaY+纯合二倍体之间,这表明uaY基因的一个功能拷贝能够介导仅一组结构基因的完全诱导。在任何两个uaY-等位基因之间均未发现互补作用。这表明表现出任何一种表型的突变都是同一基因中的等位基因;但未能提供顺反子内互补的证据。一个突变体oxpA5对黄嘌呤类似物氧嘌呤醇(4,6-二羟基吡唑并-(3,4-d)-嘧啶)具有抗性,并且腺嘌呤脱氨酶、黄嘌呤脱氢酶(嘌呤羟化酶I)和尿酸氧化酶表现出部分组成型。组成型表型被阻止细胞内诱导物合成的突变所抑制。该突变是隐性的,并且与所测试的11个uaY突变体完全互补。它定位于与它杂交的所有12个uaY突变体的左侧。数据表明,抗性和组成型均源于一个与uaY不同且可能与其相邻的基因oxpA中的一个突变事件。我们提出,oxpA基因编码一种参与限制诱导物流入细胞核的蛋白质。因此,oxpA和uaY构成一个调节基因簇,这表明uaY是调节基因。