Bros Matthias, Boissel Jean-Paul, Gödtel-Armbrust Ute, Förstermann Ulrich
Department of Dermatology, Johannes Gutenberg University, D-55101 Mainz, Germany.
Genomics. 2006 Apr;87(4):463-73. doi: 10.1016/j.ygeno.2005.11.013. Epub 2006 Jan 18.
The human neuronal nitric oxide synthase (NOS1) gene is subject to extensive splicing. A total of 12 NOS1 mRNA species have been identified. They differ in their 5' ends and are derived from 12 different first exons (termed exons 1a to 1l). Various cell lines whose NOS1 first exon expression patterns were representative of human brain, skin, and skeletal muscle were identified. These included A673 neuroepithelioma cells, SK-N-MC neuroblastoma cells, HaCaT keratinocyte-like cells, and C2C12 myocyte-like cells. In these cell lines, correlations were found between the exon 1 variants preferentially expressed and the promoter activities of their cognate 5' flanking sequences. These data demonstrate that expression of the different exon 1-related splice variants of NOS1 mRNA is controlled directly (at least in part) by the associated 5' flanking sequences.
人类神经元型一氧化氮合酶（NOS1）基因存在广泛的剪接现象。总共已鉴定出12种NOS1 mRNA种类。它们的5'端不同，且源自12个不同的第一外显子（称为外显子1a至1l）。已鉴定出各种细胞系，其NOS1第一外显子表达模式代表人类大脑、皮肤和骨骼肌。这些细胞系包括A673神经上皮瘤细胞、SK-N-MC神经母细胞瘤细胞、HaCaT角质形成细胞样细胞和C2C12肌细胞样细胞。在这些细胞系中，发现了优先表达的外显子1变体与其同源5'侧翼序列的启动子活性之间的相关性。这些数据表明，NOS1 mRNA不同的与外显子1相关的剪接变体的表达直接（至少部分）受相关5'侧翼序列控制。
