Tripodis N, Palmer S, Phillips S, Milne S, Beck S, Ragoussis J
Genomics Laboratory, Division of Medical and Molecular Genetics, Guy's Campus, GKT School of Medicine, King's College London SE1 9RT, UK.
Genome Res. 2000 Apr;10(4):454-72. doi: 10.1101/gr.10.4.454.
We have constructed a 2.5-Mb physical and transcription map that spans the human 6p21.2-6p21.3 region and includes the centromeric end of the MHC, using a combination of techniques. In total 88 transcription units including exons, cDNAs, and cDNA contigs were characterized and 60 were confidently positioned on the physical map. These include a number of genes encoding nuclear and splicing factors (Ndr kinase, HSU09564, HSRP20); cell cycle, DNA packaging, and apoptosis related [p21, HMGI(Y), BAK]; immune response (CSBP, SAPK4); transcription activators and zinc finger-containing genes (TEF-5, ZNF76); embryogenesis related (Csa-19); cell signaling (DIPP); structural (HSET), and other genes (TULP1, HSPRARD, DEF-6, EO6811, cyclophilin), as well as a number of RP genes and pseudogenes (RPS10, RPS12-like, RPL12-like, RPL35-like). Furthermore, several novel genes (a Br140-like, a G2S-like, a FBN2-like, a ZNF-like, and B1/KIAA0229) have been identified, as well as cDNAs and cDNA contigs. The detailed map of the gene content of this chromosomal segment provides a number of candidate genes, which may be involved in several biological processes that have been associated with this region, such as spermatogenesis, development, embryogenesis, and neoplasia. The data provide useful tools for synteny studies between mice and humans, for genome structure analysis, gene density comparisons, and studies of nucleotide composition, of different isochores and Giemsa light and Giemsa dark bands.
我们运用多种技术构建了一个跨越人类6p21.2 - 6p21.3区域、包含主要组织相容性复合体(MHC)着丝粒末端的2.5兆碱基对的物理图谱和转录图谱。总共鉴定了88个转录单位,包括外显子、互补DNA(cDNA)和cDNA重叠群,其中60个被可靠地定位在物理图谱上。这些包括许多编码核因子和剪接因子的基因(Ndr激酶、HSU09564、HSRP20);细胞周期、DNA包装和凋亡相关基因(p21、HMGI(Y)、BAK);免疫反应相关基因(CSBP、SAPK4);转录激活因子和含锌指基因(TEF - 5、ZNF76);胚胎发生相关基因(Csa - 19);细胞信号传导相关基因(DIPP);结构相关基因(HSET)以及其他基因(TULP1、HSPRARD、DEF - 6、EO6811、亲环蛋白),还有一些核糖体蛋白(RP)基因和假基因(RPS10、RPS12样、RPL12样、RPL35样)。此外,还鉴定了几个新基因(一个Br140样、一个G2S样、一个FBN2样、一个ZNF样和B1/KIAA0229)以及cDNA和cDNA重叠群。该染色体片段基因内容的详细图谱提供了许多候选基因,这些基因可能参与了与该区域相关的多种生物学过程,如精子发生、发育、胚胎发生和肿瘤形成。这些数据为小鼠和人类之间的同线性研究、基因组结构分析、基因密度比较以及不同等臂染色体、吉姆萨浅带和吉姆萨深带的核苷酸组成研究提供了有用的工具。