THE HUMAN OSMOREGULATORY NA+/MYO-INOSITOL COTRANSPORTER GENE (SLC5A3) - MOLECULAR-CLONING AND LOCALIZATION TO CHROMOSOME-21
THE HUMAN OSMOREGULATORY NA+/MYO-INOSITOL COTRANSPORTER GENE (SLC5A3) - MOLECULAR-CLONING AND LOCALIZATION TO CHROMOSOME-21
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DOI：
10.1016/0888-7543(95)80052-n
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发表时间：
1995-01-20
期刊：
影响因子：
4.4
通讯作者：
SPINNER, NB
中科院分区：
文献类型：
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作者：
BERRY, GT;MALLEE, JJ;SPINNER, NB
克隆了人Na+/肌醇协同转运蛋白（SLC5A3）基因；测序揭示了一个 2157 个核苷酸的无内含子开放阅读框。预测蛋白含有718个氨基酸残基，与犬渗透调节SLC5A3基因的产物高度同源。 SLC5A3 蛋白是溶质载体家族 5 中的第 3 号蛋白，之前被命名为 SMIT。利用荧光原位杂交，人类 SLC5A3 基因定位于 21 号染色体上的 q22 条带。包括大脑在内的许多组织都显示出基因表达。三体 21 细胞无法下调该渗透调节基因的三个拷贝的表达，可能导致肌醇和 Na+ 穿过质膜的通量增加。潜在的后果包括细胞膜电位和组织渗透剂水平的扰动。 SLC5A3基因可能在唐氏综合症的发病机制中发挥作用。 (C) 1995 学术出版社
A human Na+/myo-inositol cotransporter (SLC5A3) gene was cloned; sequencing revealed a single intron-free open reading frame of 2157 nucleotides. Containing 718 amino acid residues, the predicted protein is highly homologous to the product of the canine osmoregulatory SLC5A3 gene. The SLC5A3 protein is number 3 of the solute carrier family 5 and was previously designated SMIT. Using fluorescence in situ hybridization, the human SLC5A3 gene was localized to band q22 on chromosome 21. Many tissues including brain demonstrate gene expression. The inability of a trisomic 21 cell to downregulate expression of three copies of this osmoregulatory gene could result in increased flux of both myo-inositol and Na+ across the plasma membrane. The potential consequences include perturbations in the cell membrane potential and tissue osmolyte levels. The SLC5A3 gene may play a role in the pathogenesis of Down syndrome. (C) 1995 Academic Press, Inc.