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Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

作者信息

Yang-Feng T L, DeGennaro L J, Francke U

出版信息

Proc Natl Acad Sci U S A. 1986 Nov;83(22):8679-83. doi: 10.1073/pnas.83.22.8679.

DOI:10.1073/pnas.83.22.8679
PMID:3095840
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC386994/
Abstract

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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/e62c19b65009/pnas00326-0253-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/177975d64cd3/pnas00326-0253-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/65577f5cc756/pnas00326-0253-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/e62c19b65009/pnas00326-0253-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/177975d64cd3/pnas00326-0253-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/65577f5cc756/pnas00326-0253-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c17/386994/e62c19b65009/pnas00326-0253-c.jpg

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本文引用的文献

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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.由于X染色体末端短臂缺失导致的遗传性点状软骨发育不良。
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9
Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation.突触结合蛋白I(蛋白I),一种神经末梢特异性磷蛋白。III. 在高度纯化的突触小泡制剂中研究其与突触小泡的关联。
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Synapsin I (protein I), a nerve terminal-specific phosphoprotein. I. Its general distribution in synapses of the central and peripheral nervous system demonstrated by immunofluorescence in frozen and plastic sections.突触素I(蛋白I),一种神经末梢特异性磷蛋白。I. 通过冷冻切片和塑料切片免疫荧光法显示其在中枢和外周神经系统突触中的总体分布。
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