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小鼠网格蛋白相关衔接蛋白中链μ2编码基因的克隆:基因结构、可变剪接及染色体定位

Cloning of the gene encoding the murine clathrin-associated adaptor medium chain mu 2: gene organization, alternative splicing and chromosomal assignment.

作者信息

Ohno H, Poy G, Bonifacino J S

机构信息

Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Gene. 1998 Apr 14;210(2):187-93. doi: 10.1016/s0378-1119(97)00649-5.

Abstract

The mu 2 chain of the clathrin-associated adaptor complex AP-2 is a member of the adaptor medium chain family, a group of proteins involved in the sorting of integral membrane proteins in endocytic/exocytic pathways. Here, we report the cloning of the (MMU)CLAPM1 gene encoding the murine mu 2 chain, the first member of the family for which this information has become available. The mu 2 gene is approximately 8.5 kb long and is organized into 12 exons and 11 introns. Two transcripts are generated by alternative splicing of exon 5, a mini-exon of only six nucleotides. Proteins encoded by both transcripts are capable of interacting with tyrosine-based sorting signals, suggesting that they are functionally equivalent. The mu 2 gene is localized to the proximal region of mouse chromosome 16, which is syntenic to the proximal region of human chromosome 3. The isolation and characterization of the mu 2 gene should be instrumental for future studies of the genetics and physiological role of the adaptor medium chains in mammals.

摘要

网格蛋白相关衔接复合体AP-2的μ2链是衔接子中链家族的成员,该家族的一组蛋白质参与内吞/外排途径中整合膜蛋白的分选。在此,我们报道了编码小鼠μ2链的(MMU)CLAPM1基因的克隆,这是该家族首个获得此类信息的成员。μ2基因约8.5 kb长,由12个外显子和11个内含子组成。通过外显子5(仅6个核苷酸的小外显子)的可变剪接产生两种转录本。两种转录本编码的蛋白质都能够与基于酪氨酸的分选信号相互作用,表明它们在功能上是等效的。μ2基因定位于小鼠16号染色体的近端区域,该区域与人3号染色体的近端区域是同线的。μ2基因的分离和鉴定应为未来研究哺乳动物中衔接子中链的遗传学和生理作用提供帮助。

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