Baralle Marco, Skoko Natasa, Knezevich Anna, De Conti Laura, Motti Dario, Bhuvanagiri Madhuri, Baralle Diana, Buratti Emanuele, Baralle Francisco E
International Centre for Genetic Engineering and Biotechnology, ICGEB, Padriciano 99, 34012 Trieste, Italy.
FEBS Lett. 2006 Aug 7;580(18):4449-56. doi: 10.1016/j.febslet.2006.07.018. Epub 2006 Jul 14.
We have studied the splicing regulation of NF1 exons 36 and 37. We show that they not only require an intact exonic Splicing Enhancer (ESE) within exon 37, but also need the genomic region stretching from exons 31 to 38. Any nucleotide change in two exon 37 third codon positions disrupts the ESE. The extent of exons 36 and 37 skipping due to a mutated ESE depends on the genomic context. This is a unique example of what may be a more general phenomena involved in the tuning of pre-mRNA processing and gene expression modulation in the chromosomal setting.
我们研究了神经纤维瘤病1型（NF1）第36和37外显子的剪接调控。我们发现，它们不仅需要第37外显子内完整的外显子剪接增强子（ESE），还需要从第31外显子延伸至第38外显子的基因组区域。第37外显子两个第三密码子位置的任何核苷酸变化都会破坏ESE。由于ESE突变导致的第36和37外显子跳跃程度取决于基因组背景。这是一个独特的例子，可能涉及染色体环境中前体mRNA加工调控和基因表达调节的更普遍现象。
