Rowen L, Koop B F, Hood L
Department of Molecular Biotechnology, University of Washington, Seattle 98195-7730, USA.
Science. 1996 Jun 21;272(5269):1755-62. doi: 10.1126/science.272.5269.1755.
The human beta T cell receptor (TCR) locus, comprising a complex family of genes, has been sequenced. The locus contains two types of coding elements--TCR elements (65 variable gene segments and two clusters of diversity, joining, and constant segments) and eight trypsinogen genes --that constitute 4.6 percent of the DNA. Genome-wide interspersed repeats and locus-specific repeats span 30 and 47 percent, respectively, of the 685-kilobase sequence. A comparison of the germline variable elements with their approximately 300 complementary DNA counterparts reveals marked differential patterns of variable gene expression, the importance of exonuclease activity in generating TCR diversity, and the predominant tendency for only functional variable elements to be present in complementary DNA libraries.
包含复杂基因家族的人类β型T细胞受体(TCR)基因座已完成测序。该基因座包含两种类型的编码元件——TCR元件(65个可变基因片段以及两个由多样性、连接和恒定片段组成的簇)和8个胰蛋白酶原基因,它们构成了4.6%的DNA。全基因组散布重复序列和基因座特异性重复序列分别占685千碱基序列的30%和47%。将种系可变元件与其约300个互补DNA对应物进行比较,揭示了可变基因表达的显著差异模式、核酸外切酶活性在产生TCR多样性中的重要性,以及互补DNA文库中仅存在功能性可变元件的主要趋势。