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Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans.

机译:谷氨酸受体基因的染色体定位:与小鼠和人类家族性肌萎缩性侧索硬化和其他神经系统疾病的关系。

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摘要

Receptors for the major excitatory neurotransmitter glutamate may play key roles in neurodegeneration. The mouse Glur-5 gene maps to chromosome 16 between App and Sod-1. The homologous human GLUR5 gene maps to the corresponding region of human chromosome 21, which contains the locus for familial amyotrophic lateral sclerosis. This location, and other features, render GLUR5 a possible candidate gene for familial amyotrophic lateral sclerosis. In addition, dosage imbalance of GLUR5 may have a role in the trisomy 21 (Down syndrome). Further characterization of the murine glutamate receptor family includes mapping of Glur-1 to the same region as neurological mutants spasmodic, shaker-2, tipsy, and vibrator on chromosome 11; Glur-2 near spastic on chromosome 3; Glur-6 near waltzer and Jackson circler on chromosome 10; and Glur-7 near clasper on chromosome 4.
机译:主要的兴奋性神经递质谷氨酸的受体可能在神经变性中起关键作用。小鼠Glur-5基因位于App和Sod-1之间的16号染色体上。同源的人类GLUR5基因定位于人类21号染色体的相应区域,该区域包含家族性肌萎缩性侧索硬化症的基因座。该位置和其他特征使GLUR5成为家族性肌萎缩性侧索硬化症的可能候选基因。此外,GLUR5的剂量失衡可能在21三体综合征(唐氏综合症)中起作用。鼠谷氨酸受体家族的进一步表征包括将Glur-1定位到与11号染色体上的痉挛性,振动器2型,尖锐性和振动性神经突变体相同的区域;在3号染色体上接近痉挛的Glur-2;第10号染色体上的waltzer和Jackson圈圈附近的Glur-6;和Glur-7在4号染色体附近的紫水晶中

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