Kumada Maki, Iwamoto Sadahiko, Kamesaki Toyomi, Okuda Hiroshi, Kajii Eiji
Department of Legal Medicine and Human Genetics, Jichi Medical School, Minamikawachi-machi, Kawachi-gun, Tochigi-ken 329-0498, Japan.
Gene. 2002 Oct 16;299(1-2):165-72. doi: 10.1016/s0378-1119(02)01054-5.
The mouse genomic sequence of the region containing the gene Rhced, the orthologue to the human gene RH30, was determined to elucidate the structure of Rhced and its flanking regions and to compare these with the corresponding human genomic region. Two genes, Smp1 and AK003528 (an orthologue of FLJ10747), flank Rhced. Neither sequences homologous to the characteristic nucleotide elements flanking the RHD gene in humans (rhesus boxes) nor an additional Rh gene were found within the mouse region sequenced. This result and that of a previous report demonstrate that this chromosomal region of the mouse comprises five genes (FLJ10747-RHCE-SMP1-NPD014-P29) that exhibit syntenic homology with the corresponding human region, which suggests that the RHD gene and rhesus boxes were inserted later. Evaluations of tissue distribution and subcellular localization of these genes indicate that the SMP1 orthologue has a ubiquitous tissue distribution and cytoplasmic localization, whereas AK003528 is expressed slightly higher in testis with a strong subcellular localization in the nucleus. Despite the steady improvements in the draft sequence of the human genome, this study demonstrates the continuing benefits of comparative genetic analyses in increasing our understanding of human genomic structure.
为了阐明Rhced基因及其侧翼区域的结构，并将其与相应的人类基因组区域进行比较，我们测定了包含与人类基因RH30直系同源的Rhced基因区域的小鼠基因组序列。Rhced基因两侧有两个基因，分别是Smp1和AK003528（FLJ10747的直系同源基因）。在测序的小鼠区域内，未发现与人类RHD基因侧翼特征性核苷酸元件（恒河猴盒）同源的序列，也未发现额外的Rh基因。这一结果以及之前一份报告的结果表明，小鼠的这个染色体区域包含五个与相应人类区域具有同线性同源性的基因（FLJ10747-RHCE-SMP1-NPD014-P29），这表明RHD基因和恒河猴盒是后来插入的。对这些基因的组织分布和亚细胞定位的评估表明，SMP1直系同源基因在组织中广泛分布且定位于细胞质，而AK003528在睾丸中的表达略高，且在细胞核中有很强的亚细胞定位。尽管人类基因组草图序列不断完善，但这项研究表明，比较基因分析在增进我们对人类基因组结构的理解方面仍持续发挥着作用。
