Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.
Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.
复制标题
突触蛋白 I（一种神经元磷蛋白）的基因映射到人类和小鼠 X 染色体的保守区域。
DOI：
10.1073/pnas.83.22.8679
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发表时间：
1986
影响因子：
11.1
通讯作者：
Francke,U
中科院分区：
文献类型：
--
作者：
Yang-Feng,TL;DeGennaro,LJ;Francke,U
突触蛋白 I 是一种与小突触囊泡膜相关的神经元特异性磷蛋白。它的功能尚不完全清楚，但有证据表明其可能在调节神经递质释放中发挥作用。其生物合成受到发育控制。使用大鼠 cDNA 探针，通过原位杂交将人突触蛋白 I 基因分配到 X 染色体 Xp11 条带上。对一组人类-中国仓鼠体细胞杂交体的 DNA 与人类 X 染色体的特定区域进行的 DNA 印迹分析证实了原位作图数据。通过对具有正常或重排的小鼠 X 染色体的中国仓鼠-小鼠体细胞杂交体进行 Southern 印迹分析，将小鼠突触蛋白 I 基因分配至 X 染色体，靠近 XD 带。原位染色体杂交实验将小鼠突触蛋白I基因更精确地定位于条带XA1----A4。这些结果增加了哺乳动物物种的比较基因图谱，并支持有关人类和小鼠 X 染色体之间进化关系的某些假设。我们假设突触蛋白 I 基因可能在人类 X 连锁疾病中发生突变，并伴有原发性神经元变性，例如雷特综合征。
Synapsin I is a neuron-specific phosphoprotein associated with the membranes of small synaptic vesicles. Its function is not entirely clear, but evidence points to a possible role in the regulation of neurotransmitter release. Its biosynthesis is under developmental control. Assignment of the human synapsin I gene to the X chromosome at band Xp11 was accomplished by in situ hybridization, using a rat cDNA probe. Southern blot analysis of DNAs from a panel of human-Chinese hamster somatic cell hybrids with defined regions of the human X chromosome confirmed the in situ mapping data. The mouse synapsin I gene was assigned to the X chromosome, proximal to band XD, by Southern blot analysis of Chinese hamster-mouse somatic cell hybrids with normal or rearranged mouse X chromosomes. In situ chromosomal hybridization experiments localized the mouse synapsin I gene more precisely to bands XA1----A4. These results add to the comparative gene map of mammalian species and support certain hypotheses regarding the evolutionary relationship between human and mouse X chromosomes. We hypothesize that the synapsin I gene could be mutated in human X-linked disorders with primary neuronal degeneration, such as the Rett syndrome.