Francke U, Taggart R T
Proc Natl Acad Sci U S A. 1979 Oct;76(10):5230-3. doi: 10.1073/pnas.76.10.5230.
In the search for homologous chromosome regions in man and mouse, the locus for cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is of particular interest. In man, the SOD-1 gene occupies the same subregion of chromosome 21 that causes Down syndrome when present in triplicate. Although not obviously implicated in the pathogenesis, SOD-1 is considered to be a biochemical marker for this aneuploid condition. Using a set of 29 mouse-Chinese hamster somatic cell hybrids, we assign Sod-1 to mouse chromosome 16. Isoelectric focusing permits distinction between mouse and Chinese hamster isozymes, and trypsin/Giemsa banding distinguishes mouse from Chinese hamster chromosomes. The mouse fibroblasts used were derived from a male mouse carrying Searle's T(X;16)16H reciprocal translocation in which chromosomes X and 16 have exchanged parts. Analysis of informative hybrids leads to regional assignment of Sod-1 to the distal half of mouse chromosome 16 (16B4 --> ter). Because the Chinese hamster cell line (380) used for cell hybridization is deficient in hypoxanthine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8), that part of the mouse X chromosome carrying the complementing Hprt gene can be identified by selection in hypoxanthine/aminopterin/thymidine medium and counterselection in 8-azaguanine. Mouse Hprt is on the X(T) translocation product containing the proximal region X cen --> XD.
在寻找人类和小鼠的同源染色体区域时,细胞质超氧化物歧化酶(SOD-1;超氧化物:超氧化物氧化还原酶,EC 1.15.1.1)的基因座特别令人感兴趣。在人类中,SOD-1基因位于21号染色体的同一亚区域,该区域三倍体存在时会导致唐氏综合征。虽然SOD-1在发病机制中没有明显关联,但它被认为是这种非整倍体状况的生化标志物。利用一组29个小鼠-中国仓鼠体细胞杂种,我们将Sod-1定位到小鼠的16号染色体上。等电聚焦可以区分小鼠和中国仓鼠的同工酶,胰蛋白酶/吉姆萨显带可以区分小鼠和中国仓鼠的染色体。所用的小鼠成纤维细胞来自一只雄性小鼠,它携带塞尔氏T(X;16)16H相互易位,其中X染色体和16号染色体交换了部分片段。对信息丰富的杂种进行分析,将Sod-1定位到小鼠16号染色体的远端一半(16B4→末端)。由于用于细胞杂交的中国仓鼠细胞系(380)缺乏次黄嘌呤磷酸核糖转移酶(HPRT;IMP:焦磷酸磷酸核糖转移酶,EC 2.4.2.8),携带互补Hprt基因的小鼠X染色体部分可以通过在次黄嘌呤/氨基蝶呤/胸腺嘧啶培养基中筛选并在8-氮杂鸟嘌呤中进行反筛选来鉴定。小鼠Hprt位于包含近端区域X cen→XD的X(T)易位产物上。