学院将于本周四（6月30日）中午12:00时在二楼会议室主办第二十次青年教师沙龙。本次青年教师沙龙将由张贤钦教授介绍他的研究兴趣和研究进展。欢迎老师和本科生、研究生参加。另，本次沙龙将会提供午餐和咖啡。

学院办公室

2011.6.29

附：讲座题目和摘要

题目

Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation & Early Sudden Cardiac Death

摘要

Atrial fibrillation (AF) is the most common form of sustained clinical arrhythmia. We previously mapped an AF locus to chromosome 5p13 in an AF family with sudden death in early childhood. Here we show that the specific AF gene underlying this linkage is NUP155, which encodes a member of the nucleoporins, the components of the nuclear pore complex (NPC). We have identified a homozygous mutation, R391H, in NUP155 that cosegregates with AF, affects nuclear localization of NUP155, and reduces nuclear envelope permeability. Homozygous NUP155(-/-) knockout mice die before E8.5, but heterozygous NUP155(+/-) mice show the AF phenotype. The R391H mutation and reduction of NUP155 are associated with inhibition of both export of Hsp70 mRNA and nuclear import of Hsp70 protein. These human and mouse studies indicate that loss of NUP155 function causes AF by altering mRNA and protein transport and link the NPC to cardiovascular disease.