Alternative splicing of FMRl gene in fetal and adult human brain

• 作 者: 黄涛 李兰英 范钰 VICAIRE Serge 庞智玲 MANDEL Jean-Louis 吴冠芸 沈岩
• 机 构: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union
• 出 处: Progress in Natural Science
• 发表日期: 1998年06期
• 关键词: fetal splicing cortex truncation transcripts acceptor developmental alter RNA sw

Fragile X syndrome can be caused by lack of expression of the FMRl gene, which encodes an RNA binding protein. Extensive alternative splicing of the FMRl gene has been observed in human and mice. Five regions of the FMRl gene have been reported to be alternatively spliced. To determine whether such alternative splicing might be developmentally regulated, RT-PCR was used to analyze poly(A) RNA transcripts of the FMRl gene in adult and fetal human brain. A new alternative acceptor site in exon 17 that may lead to a truncation of the last 53 ammo acids of the FMRl protein was described. This acceptor site was used in several regions of fetal brain but not in adult cortex. The results suggest that alternative splicing of the FMRl gene may be subject to developmental switching

Fragile X syndrome can be caused by lack of expression of the FMRl gene, which encodes an RNA binding protein. Extensive alternative splicing of the FMRl gene has been observed in human and mice. Five regions of the FMR1 gene have been reported to be alternatively spliced . To determine whether such alternative splicing might be developedally regulated, RT-PCR was used to analyze poly (A) RNA transcripts of the FMR1 gene in adult and fetal human brain. A new alternative acceptor site in exon 17 that may lead to a truncation This last suggest that an alternative splicing of the FMR1 gene may be subject to developmental switching