小鼠16号染色体端粒区与人类21q22染色体同源,含有渗透调节Na(+)/肌醇共转运蛋白(SLC5A3)基因。

K E McVeigh, J J Mallee, A Lucente, B L Barnoski, S Wu, G T Berry
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引用次数: 14

摘要

克隆小鼠Na(+)/肌醇共转运体(SLC5A3)基因(SLC5A3),绘制酶切位点,并对其编码区进行测序。与包括人类在内的其他哺乳动物类似,该基因有一个编码外显子,具有2.2 kb的开放阅读框。与其他哺乳动物同源物相比,预测的718个氨基酸的蛋白质也高度保守。利用荧光原位杂交技术,Slc5a3定位于小鼠16号染色体的端粒区,与人类21q22染色体同源。Slc5a3拷贝数的增加可能解释了16三体小鼠大脑中肌醇水平的增加,以及肌醇转运到16三体小鼠培养的神经元中的速率增加。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene.

The murine Na(+)/myo-inositol cotransporter (SLC5A3) gene (Slc5a3) was cloned, the restriction sites mapped, and the coding region sequenced. Similar to other mammalian counterparts, including human, the gene has a single coding exon, with an open reading frame of 2.2 kb. The predicted protein of 718 amino acids is also highly conserved, compared to other mammalian homologs. Using fluorescence in situ hybridization, Slc5a3 was localized to the telomeric region of mouse chromosome 16, which is syntenic to human chromosome 21q22. An increased Slc5a3 copy number may explain the increased levels of myo-inositol in the brains of trisomy 16 mice and the increased rate of transport of myo-inositol into cultured neurons derived from trisomy 16 mice.

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