Azambuja Matheus, Orane Schemberger Michelle, Nogaroto Viviane, Moreira-Filho Orlando, Martins Cesar, Ricardo Vicari Marcelo
Programa de Pós-Graduação em Genética, Universidade Federal do Paraná, Centro Politécnico, Avenida Coronel Francisco H. dos Santos, 100, 81531-990 Curitiba, Paraná, Brazil.
Departamento de Biologia Estrutural, Molecular e Genética, Universidade Estadual de Ponta Grossa, Av. Carlos Cavalcanti, 4748, 84030-900 Ponta Grossa, Paraná, Brazil.
Gene. 2022 Jun 5;826:146459. doi: 10.1016/j.gene.2022.146459. Epub 2022 Mar 28.
In association with many proteins, small nuclear RNAs (snRNAs) organize the spliceosomes that play a significant role in processing precursor mRNAs during gene expression. According to snRNAs genic arrangements, two kinds of spliceosomes (major and minor) can be organized into eukaryotic cells. Although in situ localization of U1 and U2 snDNAs have been performed in fish karyotypes, studies with genomic characterization and functionality of U snRNAs integrated into chromosomal changes on Teleostei are still scarce. This study aimed to achieve a genomic characterization of the U snRNAs genes in Apareiodon sp. (2n = 54, ZZ/ZW), apply these data to recognize functional/defective copies, and map chromosomal changes involving snDNAs in Parodontidae species karyotype diversification. Nine snRNA multigene families (U1, U2, U4, U5, U6, U11, U12, U4atac and U6atac) arranged in putatively functional copies in the genome were analyzed. Proximal Sequence Elements (PSE) and TATA-box promoters occurrence, besides an entire transcribed region and conserved secondary structures, qualify them for spliceosome activity. In addition, several defective copies or pseudogenes were identified for the snRNAs that make up the major spliceosome. In situ localization of snDNAs in five species of Parodontidae demonstrated that U1, U2, and U4 snDNAs were involved in chromosomal location changes or units dispersion. The U snRNAs defective/pseudogenes units dispersion could be favored by the probable occurrence of active retrotransposition enzymes in the Apareiodon genome. The U2 and U4 snDNAs sites were involved in independent events in the differentiation of sex chromosomes among Parodontidae lineages. The study characterized U snRNA genes that compose major and minor spliceosomes in the Apareiodon sp. genome and proposes that their defective copies trigger chromosome differentiation and diversification events in Parodontidae.
小核RNA(snRNA)与许多蛋白质结合,组成剪接体,在基因表达过程中对前体mRNA的加工发挥重要作用。根据snRNA的基因排列,真核细胞中可形成两种剪接体(主要剪接体和次要剪接体)。虽然已经在鱼类核型中对U1和U2 snDNA进行了原位定位,但关于硬骨鱼纲中整合到染色体变化中的U snRNA的基因组特征和功能的研究仍然很少。本研究旨在对无齿脂鲤属物种(2n = 54,ZZ/ZW)的U snRNA基因进行基因组特征分析,应用这些数据识别功能正常/有缺陷的拷贝,并绘制涉及snDNA的染色体变化图谱,以研究无齿脂鲤科物种核型多样化。分析了基因组中排列成假定功能拷贝的9个snRNA多基因家族(U1、U2、U4、U5、U6、U11、U12、U4atac和U6atac)。近端序列元件(PSE)和TATA框启动子的存在,以及完整的转录区域和保守的二级结构,使其具备剪接体活性。此外,还鉴定出了构成主要剪接体的snRNA的几个有缺陷的拷贝或假基因。对5种无齿脂鲤科物种的snDNA进行原位定位表明,U1、U2和U4 snDNA参与了染色体位置变化或单元分散。无齿脂鲤基因组中可能存在的活性逆转座酶可能有利于U snRNA缺陷/假基因单元的分散。U2和U4 snDNA位点参与了无齿脂鲤科谱系中性染色体分化的独立事件。该研究对无齿脂鲤属物种基因组中构成主要和次要剪接体的U snRNA基因进行了特征分析,并提出其有缺陷的拷贝引发了无齿脂鲤科的染色体分化和多样化事件。