Chyan Y J, Ackerman S, Shepherd N S, McBride O W, Widen S G, Wilson S H, Wood T G
Recombinant DNA Laboratory, Sealy Center for Molecular Science, University of Texas Medical Branch, Galveston 77555-0851.
Nucleic Acids Res. 1994 Jul 25;22(14):2719-25. doi: 10.1093/nar/22.14.2719.
DNA polymerase beta (beta-pol) is a single-copy gene that is considered to be part of the DNA repair machinery in mammalian cells. Using two human genomic libraries we have cloned the complete human beta-pol gene and determined the organization of the beta-pol coding sequence within the gene. The human beta-pol gene spans 33 kb and contains 14 exons that range from 50 to 233 bp. The 13 introns vary from 96 bp to 6.5 kb. Information derived from this study was used in defining the location of a deletion/insertion type restriction fragment length polymorphism (RFLP) 5' to exon I of the human beta-pol gene. This RFLP was utilized in linkage analysis of DNAs from CEPH families and the results confirm the previous assignment of the human beta-pol gene to chromosome 8 (p12-p11). Analysis of mRNA from six human cell lines using the polymerase chain reaction showed the expression of two beta-pol transcripts. Sequence analysis revealed that the size difference in these transcripts was due to deletion of the 58 bp sequence encoded by exon II, suggesting that the smaller transcript results from an alternative splicing of the exon II sequence during processing of the beta-pol precursor RNA.
DNA聚合酶β（β-pol）是一个单拷贝基因，被认为是哺乳动物细胞DNA修复机制的一部分。利用两个人类基因组文库，我们克隆了完整的人类β-pol基因，并确定了该基因内β-pol编码序列的结构。人类β-pol基因跨度为33kb，包含14个外显子，长度从50到233bp不等。13个内含子的长度从96bp到6.5kb不等。本研究获得的信息用于确定人类β-pol基因外显子I 5'端缺失/插入型限制性片段长度多态性（RFLP）的位置。该RFLP被用于CEPH家族DNA的连锁分析，结果证实了人类β-pol基因先前被定位到8号染色体（p12-p11）。使用聚合酶链反应对六种人类细胞系的mRNA进行分析，结果显示有两种β-pol转录本表达。序列分析表明，这些转录本的大小差异是由于外显子II编码的58bp序列缺失所致，这表明较小的转录本是β-pol前体RNA加工过程中外显子II序列选择性剪接的结果。
