Hoogenraad C C, Eussen B H, Langeveld A, van Haperen R, Winterberg S, Wouters C H, Grosveld F, De Zeeuw C I, Galjart N
MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, 3000 DR, The Netherlands.
Genomics. 1998 Nov 1;53(3):348-58. doi: 10.1006/geno.1998.5529.
Cytoplasmic linker proteins (CLIPs) have been proposed to mediate the interaction between specific membranous organelles and microtubules. We have recently characterized a novel member of this family, called CLIP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle called the dendritic lamellar body. CLIP-115 is highly homologous to CLIP-170, or restin, which is a protein involved in the binding of endosomes to microtubules. Using the rat cDNA as a probe we have isolated overlapping cosmids containing the complete murine and part of the human CYLN2 (cytoplasmic linker-2) genes, which encode CLIP-115. The murine gene spans 60 kb and consists of 17 exons, and its promoter is embedded in a CpG island. Murine CYLN2 maps to the telomeric end of mouse chromosome 5. The human CYLN2 gene is localized to a syntenic region on chromosome 7q11.23, which is commonly deleted in Williams syndrome. It spans at least 140 kb at the 3' end of the deletion. Human CYLN2 is very likely identical to the previously characterized, incomplete WSCR4 and WSCR3 transcription units.
胞质连接蛋白（CLIPs）被认为可介导特定膜性细胞器与微管之间的相互作用。我们最近鉴定出了该家族的一个新成员，称为CLIP - 115。这种蛋白质在大脑中表达最为丰富，并且被发现既与微管结合，也与一种称为树突状层状体的细胞器结合。CLIP - 115与CLIP - 170（即restin）高度同源，后者是一种参与内体与微管结合的蛋白质。我们以大鼠cDNA为探针，分离出了包含完整小鼠和部分人类CYLN2（胞质连接蛋白2）基因的重叠黏粒，该基因编码CLIP - 115。小鼠基因跨度为60 kb，由17个外显子组成，其启动子位于一个CpG岛中。小鼠CYLN2定位于小鼠5号染色体的端粒末端。人类CYLN2基因定位于7号染色体q11.23的同线区域，该区域在威廉姆斯综合征中通常会缺失。它在缺失区域的3'端至少跨度140 kb。人类CYLN2很可能与先前鉴定的不完整的WSCR4和WSCR3转录单位相同。
