一个平衡的反转多态表现出基因表达水平的支配性逆转,这取决于发育背景
Esra Durmaz Mitchell1,2, Envel Kerdaffrec1, Paul Schmidt3
1Department of Biology, University of Fribourg, Fribourg, Switzerland.
Molecular biology and evolution
|August 30, 2025
概括
遗传变异是由复杂的机制维持的,可能涉及主导逆转. 这项研究观察到果逆转的情境依赖性优势变化,这表明它在维持遗传多样性方面发挥了作用.
科学领域:
- 进化遗传学
- 种群遗传学
- 分子进化
背景情况:
- 基因差异对于健康至关重要,但目前的模型无法完全解释.
- 具有主导性逆转的对抗性平衡选择是维持差异的建议,但证据不足的机制.
- 均衡的反转多态,如D. melanogaster中的In(3R) Payne,是研究这种现象的候选者.
研究的目的:
- 调查In(3R) Payne逆转对基因表达和染色质可访问性的影响.
- 探索这种多态化中的情境依赖主导逆转的潜力.
- 识别介导这些主导转变的候选基因或调控元素.
主要方法:
- 用RNA测序 (RNA-seq) 来分析基因表达差异.
- 使用测序 (ATAC-seq) 测定可转移酶可访问的染色体,以评估染色体的可访问性.
- 在不同发育阶段 (胚胎和翼盘) 进行逆向 (INV) 和标准 (STD) 组合之间的基因表达和染色质模式的比较分析.
主要成果:
- 在发育情境之间,In(3R) Payne安排的支配模式发生了变化:INV在胚胎中占主导地位,而STD在翅膀盘中占主导地位.
- 这些依赖上下文的优势变化影响了协调的基因组,表明了调控调解.
- 显著比例的差异表达基因编码转录因子,HP1c被确定为主导变化的潜在媒介.
结论:
- 在In(3R) Payne反转中观察到的占主导地位反转提供了依据上下文的监管机制的证据.
- 这些发现支持主导地位的转变可能有助于保持反转多态和遗传变异的假设.
- 需要进一步的研究来直接将这些分子模式与健康后果联系起来.
相关概念视频
Genomic Imprinting and Inheritance
35.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.2K
Position-effect Variegation
6.5K
In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
6.5K
Incomplete Dominance
25.4K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.4K
Regulation of Expression Occurs at Multiple Steps
23.2K
Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
23.2K
Regulation of Expression at Multiple Steps
994
The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
994
Overview of Transposition and Recombination
16.1K
Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
16.1K


