Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
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DOI：
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发表时间：
1990-09
影响因子：
9.8
通讯作者：
T. Ozcelik;R. Lafreniére;B. T. Archer;P. Johnston;H. Willard;U. Francke;T. Südhof
中科院分区：
文献类型：
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作者：
T. Ozcelik;R. Lafreniére;B. T. Archer;P. Johnston;H. Willard;U. Francke;T. Südhof
突触素是脑和内分泌细胞中小突触小泡的一种完整的膜蛋白。我们已经确定了人类突触素基因的结构和组织，并建立了人和小鼠的染色体定位。对一个含有人突触素基因(SYP)的粘粒克隆的分析显示，与先前发表的cDNA序列相比，有7个外显子分布在约20kb的大小。外显子-内含子边界已经被确定，并且与功能结构域无关。一个内含子中断了3‘非翻译区。人和小鼠突触素基因的染色体定位在X染色体上的Xp11.22-p11.23亚带上建立了人的SYP基因座，在A-D区的X染色体上建立了小鼠的突触素基因座(SYP)。此外，Eco0109 RFLP已被发现并用于人类SYP基因座的遗传图谱，并在大约4-7厘米器官范围内支持TIMP-SYP-DXS14目。
Synaptophysin is an integral membrane protein of small synaptic vesicles in brain and endocrine cells. We have determined the structure and organization of the human synaptophysin gene and have established the chromosome localizations in man and mouse. Analysis of a cosmid clone containing the human synaptophysin gene (SYP) revealed seven exons distributed over approximately 20 kb, when compared with the previously published cDNA sequence. The exon-intron boundaries have been identified and do not correlate with functional domains. One intron interrupts the 3' untranslated region. Chromosomal localization of the human and murine genes for synaptophysin established the human SYP locus on the X chromosome in subbands Xp11.22-p11.23 and the mouse synaptophysin gene locus (Syp) on the X chromosome in region A-D. In addition, an Eco0109 RFLP has been identified and used in genetic mapping of the human SYP locus and supports the order TIMP-SYP-DXS14 within a span of approximately 4-7 centimorgans.