Zhang X, Yang H, Corydon M J, Zhang X, Pedersen S, Korenberg J R, Chen X N, Laporte J, Gregersen N, Niebuhr E, Liu G, Bolund L
Human Genome Center, Institute of Genetics, Beijing, China.
Genomics. 1999 Apr 1;57(1):144-51. doi: 10.1006/geno.1999.5741.
Nucleoporins are the main components of nuclear pore complexes (NPCs) involved in nucleo-cytoplasmic transport. Starting with an expressed DNA fragment retrieved by exon trapping from pooled human BAC clones mapped to the short arm of chromosome 5, we identified a human nucleoporin cDNA sequence by PCR from a human testis cDNA library. The coding sequence showed high homology to that of the rat nucleoporin 155 (Nup155) cDNA. FISH analysis with the human BAC clone as probe localized the human NUP155 gene to chromosome band 5p13. Northern analysis showed that the human NUP155 gene was expressed at different levels in all tissues tested. Two species of transcripts were observed with estimated lengths of 5.4 and 4.7 kb, respectively, in concordance with the finding of two alternative polyadenylation sites in the cDNA. The genomic location of the human NUP155 gene suggests a possible role in the mental and developmental retardation associated with hemizygous deletions of the 5p13 region.
核孔蛋白是参与核质运输的核孔复合体（NPC）的主要成分。从通过外显子捕获从定位到5号染色体短臂的人BAC克隆池中检索到的一个表达的DNA片段开始，我们使用人睾丸cDNA文库通过PCR鉴定了一个人核孔蛋白cDNA序列。该编码序列与大鼠核孔蛋白155（Nup155）cDNA的编码序列具有高度同源性。以人BAC克隆为探针的荧光原位杂交分析将人NUP155基因定位到5p13染色体带。Northern分析表明，人NUP155基因在所有测试组织中均有不同水平的表达。观察到两种转录本，估计长度分别为5.4和4.7 kb，这与cDNA中两个可变聚腺苷酸化位点的发现一致。人NUP155基因的基因组定位表明其在与5p13区域半合子缺失相关的智力和发育迟缓中可能发挥作用。
