Montpetit Alexandre, Wilson Michael D, Chevrette Mario, Koop Ben F, Sinnett Daniel
Division of Hematology-Oncology, Charles-Bruneau Cancer Center, Sainte-Justine Hospital, 3175 Côte Ste-Catherine, Montreal, QC, H3T 1C5, Canada.
BMC Genomics. 2003 Jul 23;4(1):30. doi: 10.1186/1471-2164-4-30.
The pufferfish Fugu rubripes (Fugu) with its compact genome is increasingly recognized as an important vertebrate model for comparative genomic studies. In particular, large regions of conserved synteny between human and Fugu genomes indicate its utility to identify disease-causing genes. The human chromosome 12p12 is frequently deleted in various hematological malignancies and solid tumors, but the actual tumor suppressor gene remains unidentified.
We investigated approximately 200 kb of the genomic region surrounding the ETV6 locus in Fugu (fETV6) in order to find conserved functional features, such as genes or regulatory regions, that could give insight into the nature of the genes targeted by deletions in human cancer cells. Seven genes were identified near the fETV6 locus. We found that the synteny with human chromosome 12 was conserved, but extensive genomic rearrangements occurred between the Fugu and human ETV6 loci.
This comparative analysis led to the identification of previously uncharacterized genes in the human genome and some potentially important regulatory sequences as well. This is a good indication that the analysis of the compact Fugu genome will be valuable to identify functional features that have been conserved throughout the evolution of vertebrates.
基因组紧凑的河豚（红鳍东方鲀）越来越被认为是比较基因组研究的重要脊椎动物模型。特别是，人类和河豚基因组之间大片保守的同线性区域表明其在鉴定致病基因方面的效用。人类12号染色体p12在各种血液系统恶性肿瘤和实体瘤中经常缺失，但实际的肿瘤抑制基因仍未确定。
我们研究了河豚（fETV6）中ETV6基因座周围约200 kb的基因组区域，以寻找保守的功能特征，如基因或调控区域，从而深入了解人类癌细胞中缺失所靶向基因的性质。在fETV6基因座附近鉴定出七个基因。我们发现与人类12号染色体的同线性是保守的，但河豚和人类ETV6基因座之间发生了广泛的基因组重排。
这种比较分析导致了在人类基因组中鉴定出以前未表征的基因以及一些潜在重要的调控序列。这充分表明，对紧凑的河豚基因组进行分析对于鉴定在整个脊椎动物进化过程中保守的功能特征将是有价值的。
