全基因组和转录基因组数据的综合分析揭示了不同表达的长非编码RNA中的新型变异,与类精子症相关
Maria-Anna Kyrgiafini1, Maria Katsigianni1, Themistoklis Giannoulis2
1Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, Greece.
Non-coding RNA
|January 23, 2025
概括
这项研究确定了长非编码RNA (lncRNAs) 的新型变异,这些变异与男性不孕症的原因之一 - - 精子生育不良有关. 这些遗传变化影响lncRNA结构和相互作用,为精子运动障碍提供了新的见解.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 生物信息学是一种生物信息学.
背景情况:
- 缺精症 (Asthenozoospermia),其特点是精子运动性降低,是男性不孕症的主要原因.
- 长非编码RNAs (lncRNAs) 越来越多地被认为是它们在精子生成和精子功能中的关键作用.
- 虽然研究了编码区域,但对非编码区域在类精子症中的作用仍然不太了解.
研究的目的:
- 为了识别和优先考虑差异表达 (DE) 长非编码RNAs (lncRNAs) 中的遗传变异,这些变异仅在阿斯类精子男性中发现.
- 研究这些变异对lncRNA结构和lncRNA-miRNA-mRNA相互作用的功能影响.
- 通过专注于非编码区域,更全面地了解类精子症的遗传基础.
主要方法:
- 整个基因组测序 (WGS) 和RNA测序 (RNA-seq) 在来自类和常态类个体的样本上进行.
- 生物信息学分析被用来映射DE lncRNAs的独特变异,并预测它们的功能影响.
- 计算工具评估了变异的结构效应及其对lncRNA-miRNA相互作用的影响,并补充了基因本体学和KEGG通路分析.
主要成果:
- 在258个DE lncRNA中发现了4173个独特的变异.
- 五个lncRNA中的五个变异影响了lncRNA结构,17个lncRNA中的20个变异预计会破坏miRNA-lncRNA相互作用.
- 丰富的途径包括Wnt信号传递,酸酶结合和细胞增殖,所有这些都与生殖健康有关.
结论:
- 差异表达的lncRNAs中的特定变异被确定为潜在的促进性精.
- 这项研究强调了非编码RNA变异在男性不孕症中的重要性.
- 这些发现提供了有价值的见解和未来研究的基础,用于研究非编码RNA在男性生殖健康中的作用,使用全基因组测序数据.
相关概念视频
lncRNA - Long Non-coding RNAs
8.5K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.5K
Genome-wide Association Studies-GWAS
12.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.4K
Exon Recombination
3.5K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.5K
Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K


