Nelson J E, Krawetz S A
Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, Michigan 48201.
J Biol Chem. 1994 Dec 9;269(49):31067-73.
The spermatid-specific nucleoprotamine genes PRM1 and PRM2 and the transition protein gene TNP2 are clustered at a single site on human chromosome 16p13.2. To begin to understand the mechanism governing their genesis and coordinate regulation the primary sequence of this approximately 40.6 kilobase region was determined. This cluster of genes is embedded within a series of repetitive elements, including numerous Alu elements distributed at a frequency of > 1 Alu element/kilobase. Multiple Alu elements have integrated into separate truncated L1 sequences within this region. Many of these Alu elements are tandemly inserted or clustered. The role of repetitive elements in the genomic organization and evolution of this gene cluster is discussed. Computer-assisted sequence analysis revealed the presence of structural sequence elements often associated with the boundary regions of active transcriptional domains. Further analysis identified a CpG island at the 3' end of this segment of chromosome 16 and other candidate coding segments within this region indicative of an additional linked gene. These sequence landmarks are commensurate with the complexity of the region.
精子细胞特异性核鱼精蛋白基因PRM1和PRM2以及过渡蛋白基因TNP2聚集在人类染色体16p13.2的一个位点上。为了开始了解控制它们起源和协调调控的机制，测定了这个约40.6千碱基区域的一级序列。这一基因簇嵌入一系列重复元件中，包括许多以大于1个Alu元件/千碱基的频率分布的Alu元件。多个Alu元件已整合到该区域内不同的截短L1序列中。许多这些Alu元件是串联插入或成簇的。讨论了重复元件在该基因簇基因组组织和进化中的作用。计算机辅助序列分析揭示了通常与活性转录域边界区域相关的结构序列元件的存在。进一步分析在16号染色体该片段的3'端鉴定出一个CpG岛以及该区域内其他候选编码片段，提示存在一个额外的连锁基因。这些序列标志物与该区域的复杂性相符。
