Kawasaki K, Minoshima S, Nakato E, Shibuya K, Shintani A, Schmeits J L, Wang J, Shimizu N
Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
Genome Res. 1997 Mar;7(3):250-61. doi: 10.1101/gr.7.3.250.
A total of 1,025,415 bases of nucleotide sequence, including the entire human immunoglobulin lambda gene locus has been determined. This is the largest contiguous human DNA sequence ever published. The sequence data revealed the organization of 36 potentially active V lambda gene segments, 33 pseudogene segments, and seven J lambda-C lambda gene segments. Among these 69 functional or nonfunctional V lambda gene segments, 32 were newly discovered. These V lambda gene segments are located within five gene-rich clusters and are divided into five clans based on sequence identity. Five potentially active nonimmunoglobulin genes were also detected within the lambda gene locus, and two other genes were observed in the upstream region. Sequence organization suggests that large DNA duplications diversified the germ-line repertoire of the V lambda gene segments.
已经测定了总共1,025,415个碱基的核苷酸序列，其中包括完整的人类免疫球蛋白λ基因座。这是有史以来发表的最大的连续人类DNA序列。序列数据揭示了36个潜在活性Vλ基因片段、33个假基因片段和7个Jλ-Cλ基因片段的组织情况。在这69个功能性或非功能性Vλ基因片段中，有32个是新发现的。这些Vλ基因片段位于五个富含基因的簇内，并根据序列同一性分为五个家族。在λ基因座内还检测到五个潜在活性的非免疫球蛋白基因，并且在上游区域观察到另外两个基因。序列组织表明，大的DNA重复使Vλ基因片段的种系库多样化。
