Organization and evolution of a gene-rich region of the mouse genome:: A 12.7-Mb region deleted in the Del(13)Svea36H mouse
Organization and evolution of a gene-rich region of the mouse genome:: A 12.7-Mb region deleted in the Del(13)Svea36H mouse
复制标题
DOI：
10.1101/gr.2478604
复制
发表时间：
2004-10-01
期刊：
影响因子：
7
通讯作者：
Brown, SDM
中科院分区：
文献类型：
--
作者：
Mallon, AM;Wilming, L;Brown, SDM
Del（13）Svea 36 H（Del 36 H）是小鼠13号染色体上约20%的缺失，与人染色体6p22.1-6p22.3/6p 25具有保守的同线性。人类区域在一些缺失综合征中丢失，并且是几个疾病基因座的位点。杂合子Del 36 H小鼠显示出许多表型，并可能模拟人类遗传疾病的各个方面。我们描述了来自Del 36 H的12.7 Mb的已完成的注释序列。Del 36 H的基因密度高于小鼠基因组草图，反映了三个基因家族（犁鼻受体、丝氨酸蛋白酶抑制剂和催乳素）的高局部密度，这三个基因家族相对于人类大大扩展。转座因子集中在这些基因家族附近。因此，我们认为它们的邻近区域是基因工厂，是基因复制更频繁的频繁重组区域。基因家族显示出不同比例的假基因，可能反映了纯化选择和/或基因转换的不同强度。它们还与相对较低的简单序列浓度相关，这些浓度在整个区域内以类似于5 Mb的周期性变化。Del 36 H包含许多进化保守区（ECR）。许多位于非编码区，在像玻璃海鞘这样遥远的物种中是可检测的，因此是候选调控序列。该分析将促进Del 36 H的功能基因组分析，并提供对小鼠基因组进化的见解。
Del(13)Svea36H (Del36H) is a deletion of similar to20% of mouse chromosome 13 showing conserved synteny with human chromosome 6p22.1-6p22.3/6p25. The human region is lost in some deletion syndromes and is the site of several disease loci. Heterozygous Del36H mice show numerous phenotypes and may model aspects of human genetic disease. We describe 12.7 Mb of finished, annotated sequence from Del36H. Del36H has a higher gene density than the draft mouse genome, reflecting high local densities of three gene families (vomeronasal receptors, serpins, and prolactins) which are greatly expanded relative to human. Transposable elements are concentrated near these gene families. We therefore suggest that their neighborhoods are gene factories, regions of frequent recombination in which gene duplication is more frequent. The gene families show different proportions of pseudogenes, likely reflecting different strengths of purifying selection and/or gene conversion. They are also associated with relatively low simple sequence concentrations, which vary across the region with a periodicity of similar to5 Mb. Del36H contains numerous evolutionarily conserved regions (ECRs). Many lie in noncoding regions, are detectable in species as distant as Ciona intestinalis, and therefore are candidate regulatory sequences. This analysis will facilitate functional genomic analysis of Del36H and provides insights into mouse genome evolution.