Zimmer M, Fink T M, Franke Y, Lichter P, Spiess J
Max-Planck-Institut für experimentelle Medizin, Abteilung Molekulare Neuroendokrinologie, Göttingen, Germany.
Gene. 1995 Jul 4;159(2):219-23. doi: 10.1016/0378-1119(95)00044-7.
The complete gene encoding the human N-methyl-D-aspartate receptor subunit NR1 (NMDAR1) has been isolated on a single cosmid clone. The gene is composed of 21 exons distributed over a total length of about 31 kb. More than 24 kb were sequenced. Exons 4, 20 and 21 are identical in their amino-acid sequence to those exons that are subject to alternative splicing in rat, indicating that all eight NMDAR1 isoforms found in rat will also be expressed in the human brain. Computer analysis of the pre-mRNA sequence revealed no secondary structures stable enough to explain alternative splicing. We suggest that cell-specific factors control expression of different isoforms. The promoter region contains two perfect copies of the recognition sequence for the Drosophila even-skipped protein, indicating that the developmentally regulated expression of NMDAR1 is controlled by a homeobox protein. The complete cosmid clone covering NMDAR1 was mapped to chromosome 9q34.3-qter by fluorescent in situ hybridization (FISH). The telomeric location is supported by an imperfect (CA)n repeat homologous to a subtelomeric repeat on chromosome 16p.
编码人类 N-甲基-D-天冬氨酸受体亚基 NR1（NMDAR1）的完整基因已在一个单一的黏粒克隆中分离出来。该基因由 21 个外显子组成，分布在总长约 31 kb 的区域。已对超过 24 kb 的序列进行了测序。外显子 4、20 和 21 的氨基酸序列与大鼠中发生可变剪接的那些外显子相同，这表明在大鼠中发现的所有八种 NMDAR1 异构体也将在人类大脑中表达。对前体 mRNA 序列的计算机分析未发现稳定到足以解释可变剪接的二级结构。我们认为细胞特异性因子控制不同异构体的表达。启动子区域包含果蝇偶数跳动蛋白识别序列的两个完美拷贝，这表明 NMDAR1 的发育调控表达受一个同源框蛋白控制。通过荧光原位杂交（FISH）将覆盖 NMDAR1 的完整黏粒克隆定位到 9q34.3 - qter 染色体上。端粒位置由与 16p 染色体上一个亚端粒重复同源的不完美（CA）n 重复支持。
