Martínez de Arrieta C, Pérez Jurado L, Bernal J, Coloma A
Departamento de Bioquímica/instituto de investigaciones Biomédicas del CSIC, Facultad de Medicina de la Universidad Autónoma de Madrid, Spain.
Genomics. 1997 Apr 15;41(2):243-9. doi: 10.1006/geno.1997.4622.
In this report the identification, structure, and chromosomal localization of the human neurogranin gene (NRGN) are described. NRGN is the human homolog of the rat Ng/RC3 gene, which encodes a brain-specific protein expressed in telencephalic neurons. The human NRGN gene spans approximately 12 kb and contains four exons and three introns. All splice acceptor and donor sites conform to the canonical AG/GT rule. Human neurogranin sequence predicts a 78-amino-acid protein with 5 amino acids encoded by exon 1 and the remaining 73 amino acids encoded by exon 2. The third and fourth exons contain untranslated sequences. The overall degree of homology between the human and the rat coding sequences is 90% for the nucleic acid sequence, with 96% identity and 97.5% similarity at the protein level. The NRGN gene is expressed exclusively in brain as a single 1.3-kb mature mRNA. The promoter lacks both TATA and CAAT boxes, but shows a consensus sequence for an initiator element located 234 bases upstream from the AUG initiation codon. The 5'-flanking region contains multiple putative binding sites for transcription factors such as Sp1, GCF, AP2, and PEA3. Analysis of a panel of radiation hybrids has led to localization of the NRGN gene in YAC 763A2 (CEPH), previously mapped at 11q24. This locus is contained in a region of conserved synteny with mouse chromosome 9.
在本报告中,描述了人类神经颗粒素基因(NRGN)的鉴定、结构及染色体定位。NRGN是大鼠Ng/RC3基因的人类同源物,该基因编码一种在端脑神经元中表达的脑特异性蛋白。人类NRGN基因跨度约12 kb,包含4个外显子和3个内含子。所有剪接受体和供体位点均符合典型的AG/GT规则。人类神经颗粒素序列预测其为一种含78个氨基酸的蛋白质,其中5个氨基酸由外显子1编码,其余73个氨基酸由外显子2编码。第三和第四外显子包含非翻译序列。人类和大鼠编码序列之间核酸序列的总体同源程度为90%,在蛋白质水平上,同一性为96%,相似性为97.5%。NRGN基因仅在脑中表达为单一的1.3 kb成熟mRNA。该启动子既缺乏TATA盒也缺乏CAAT盒,但在距AUG起始密码子上游234个碱基处显示出一个起始元件的共有序列。5'侧翼区域包含多个转录因子如Sp1、GCF、AP2和PEA3的假定结合位点。对一组辐射杂种的分析已将NRGN基因定位到YAC 763A2(CEPH)中,该YAC先前被定位在11q24。该位点包含在与小鼠9号染色体保守同线性的区域内。