Zorc Minja, Kunej Tanja
Chair of Genetics, Animal Biotechnology and Immunology, Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Groblje 3, SI-1230, Domzale, Slovenia.
Chromosome Res. 2016 May;24(2):225-30. doi: 10.1007/s10577-016-9517-9. Epub 2016 Jan 22.
MicroRNAs (miRNAs) are a class of non-coding RNAs involved in posttranscriptional regulation of target genes. Regulation requires complementarity between target mRNA and the mature miRNA seed region, responsible for their recognition and binding. It has been estimated that each miRNA targets approximately 200 genes, and genetic variability of miRNA genes has been reported to affect phenotypic variability and disease susceptibility in humans, livestock species, and model organisms. Polymorphisms in miRNA genes could therefore represent biomarkers for phenotypic traits in livestock animals. In our previous study, we collected polymorphisms within miRNA genes in chicken. In the present study, we identified miRNA-related genomic overlaps to prioritize genomic regions of interest for further functional studies and biomarker discovery. Overlapping genomic regions in chicken were analyzed using the following bioinformatics tools and databases: miRNA SNiPer, Ensembl, miRBase, NCBI Blast, and QTLdb. Out of 740 known pre-miRNA genes, 263 (35.5 %) contain polymorphisms; among them, 35 contain more than three polymorphisms The most polymorphic miRNA genes in chicken are gga-miR-6662, containing 23 single nucleotide polymorphisms (SNPs) within the pre-miRNA region, including five consecutive SNPs, and gga-miR-6688, containing ten polymorphisms including three consecutive polymorphisms. Several miRNA-related genomic hotspots have been revealed in chicken genome; polymorphic miRNA genes are located within protein-coding and/or non-coding transcription units and quantitative trait loci (QTL) associated with production traits. The present study includes the first description of an exonic miRNA in a chicken genome, an overlap between the miRNA gene and the exon of the protein-coding gene (gga-miR-6578/HADHB), and the first report of a missense polymorphism located within a mature miRNA seed region. Identified miRNA-related genomic hotspots in chicken can serve researchers as a starting point for further functional studies and association studies with poultry production and health traits and the basis for systematic screening of exonic miRNAs and missense/miRNA seed polymorphisms in other genomes.
微小RNA(miRNA)是一类参与靶基因转录后调控的非编码RNA。这种调控需要靶mRNA与成熟miRNA种子区域之间具有互补性,该区域负责它们的识别和结合。据估计,每个miRNA靶向约200个基因,并且据报道miRNA基因的遗传变异性会影响人类、家畜物种和模式生物的表型变异性和疾病易感性。因此,miRNA基因中的多态性可能代表家畜动物表型性状的生物标志物。在我们之前的研究中,我们收集了鸡miRNA基因内的多态性。在本研究中,我们确定了与miRNA相关的基因组重叠区域,以便对感兴趣的基因组区域进行优先级排序,用于进一步的功能研究和生物标志物发现。使用以下生物信息学工具和数据库分析鸡的重叠基因组区域:miRNA SNiPer、Ensembl、miRBase、NCBI Blast和QTLdb。在740个已知的前体miRNA基因中,263个(35.5%)含有多态性;其中,35个含有三个以上的多态性。鸡中多态性最高的miRNA基因是gga-miR-6662,在前体miRNA区域内含有23个单核苷酸多态性(SNP),包括五个连续的SNP,以及gga-miR-6688,含有十个多态性,包括三个连续的多态性。在鸡基因组中揭示了几个与miRNA相关的基因组热点;多态性miRNA基因位于蛋白质编码和/或非编码转录单元以及与生产性状相关的数量性状位点(QTL)内。本研究首次描述了鸡基因组中的一个外显子miRNA、miRNA基因与蛋白质编码基因(gga-miR-6578/HADHB)外显子之间的重叠,以及首次报道了位于成熟miRNA种子区域内的错义多态性。在鸡中鉴定出的与miRNA相关的基因组热点可为研究人员提供进一步功能研究以及与家禽生产和健康性状关联研究的起点,也为系统筛选其他基因组中的外显子miRNA和错义/miRNA种子多态性奠定基础。