Ponnambalam S, Jackson A P, LeBeau M M, Pravtcheva D, Ruddle F H, Alibert C, Parham P
Imperial Cancer Research Fund, Lincoln's Inn Fields, London, United Kingdom.
Genomics. 1994 Dec;24(3):440-4. doi: 10.1006/geno.1994.1650.
Two human clathrin light-chain genes have been defined. The gene (CLTA) encoding the LCa light chain maps to the long arm of chromosome 12 at 12q23-q24 and that encoding the LCb light chain (CLTB) maps to the long arm of chromosome 4 at 4q2-q3. Isolation and characterization of partial genomic clones encoding human LCa and LCb reveal the neuron-specific insertions of the LCa and LCb proteins to be encoded by discrete exons, thus proving that clathrin light chains undergo alternate mRNA splicing to generate tissue-specific protein isoforms. The insertion sequence of LCb is encoded by a single exon and that of LCa by two exons. The first of the two neuron-specific LCa exons is homologous to the corresponding LCb exon. An intronic sequence of the LCb gene with similarity to the second neuron-specific exon of the LCa gene has been identified.
已确定了两个人类网格蛋白轻链基因。编码LCa轻链的基因（CLTA）定位于12号染色体长臂的12q23 - q24，而编码LCb轻链的基因（CLTB）定位于4号染色体长臂的4q2 - q3。对编码人类LCa和LCb的部分基因组克隆的分离和特性分析表明，LCa和LCb蛋白的神经元特异性插入由离散的外显子编码，从而证明网格蛋白轻链经历可变mRNA剪接以产生组织特异性蛋白异构体。LCb的插入序列由单个外显子编码，而LCa的插入序列由两个外显子编码。两个神经元特异性LCa外显子中的第一个与相应的LCb外显子同源。已鉴定出LCb基因的一个内含子序列，其与LCa基因的第二个神经元特异性外显子相似。
