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相关概念视频

RNA Splicing01:32

RNA Splicing

56.4K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.4K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.2K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.2K
Pleiotropy01:33

Pleiotropy

40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

11.5K
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...
11.5K
X-linked Traits01:19

X-linked Traits

54.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.9K
Sex-linked Disorders01:43

Sex-linked Disorders

102.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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相关实验视频

Updated: Jul 9, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

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系统性红斑狼中广泛的替代拼接模式突出了性别差异.

Despoina Kosmara1,2, Sofia Papanikolaou1,3, Christoforos Nikolaou3

  • 1Rheumatology and Clinical Immunology, University Hospital of Heraklion and University of Crete Medical School, 71500 Heraklion, Greece.

Cells
|December 9, 2023
PubMed
概括

替代拼接 (AS) 的性别差异在全身性红斑狼 (SLE) 和健康个体中很普遍. 这些拼接变异,特别是在SLE中,为自身免疫的性二态性提供了新的见解.

关键词:
替代性拼接是一种替代性的拼接.自体免疫性是一种自身免疫性.基因组变化的基因组变化.内部保留可以保持.在性爱中,性爱是性爱.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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科学领域:

  • 免疫学 免疫学 免疫学
  • 遗传学 遗传学 是一个
  • 分子生物学分子生物学

背景情况:

  • 免疫反应表现出显著的基于性别的差异,女性容易发生自身免疫,而男性会出现更严重的疾病表现.
  • 在自身免疫性疾病中驱动这种性变态的潜在分子机制在很大程度上是未知的.
  • 系统性红斑狼 (SLE) 作为研究性别偏倚的自身免疫疾病的关键模型.

研究的目的:

  • 综合分析全血基因表达中的性别差异,特别关注SLE中的替代拼接 (AS) 事件.
  • 调查SLE患者和健康个体中性别依赖性AS的流行率和性质.
  • 识别与健康状态相比,SLE中受性别偏差AS影响的独特基因组和分子通路.

主要方法:

  • 在79名活跃的SLE患者和58名匹配的健康对照中进行了全血RNA测序.
  • 分析的重点是识别和量化不同性别和疾病状态的替代拼接事件.
  • 进行了差异基因表达和拼接分析,以比较性别特异性模式.

主要成果:

  • 拼接事件的性别差异在SLE患者和健康对照中普遍存在.
  • 不同的基因组和分子通路是SLE患者与健康受试者的性别依赖AS的目标.
  • 在内部保留事件中观察到显著的性别差异,SLE特定的性差拼接基因富含染色质重塑,压力和炎症反应.
  • 在AS中性别差异的幅度超过了整体基因表达的性别差异.

结论:

  • 这项研究揭示了SLE和健康个体在性别依赖的替代拼接中存在显著和广泛的差异.
  • 这些发现突出了AS在自身免疫中观察到的性二态性中发挥的关键作用.
  • 了解这些特定于性别的拼接模式可能为自身免疫性疾病提供新的治疗点.