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相关概念视频

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Incomplete Dominance01:43

Incomplete Dominance

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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.
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Pleiotropy01:33

Pleiotropy

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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,...
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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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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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...
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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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一个细胞类型意识框架,用于指定孟德尔调节障碍中的非编码变异.

Arthur S Lee1,2,3,4, Lauren J Ayers5, Michael Kosicki6

  • 1Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. arthur.lee@childrens.harvard.edu.

Nature communications
|September 27, 2024
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概括

研究人员开发了一种新的单细胞多基因框架,以识别先天性脑失神障碍 (CCDD) 的非编码变异. 这种方法有助于在缺少编码变异的情况下发现罕见疾病的遗传原因.

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科学领域:

  • 基因组学就是基因组学.
  • 发展生物学 发展生物学
  • 神经科学是一个神经科学.

背景情况:

  • 未解决的孟德尔病常常缺乏病原性编码变体,这表明可能涉及非编码区域.
  • 先天性头骨神经衰竭障碍 (CCDD) 是一组影响头骨运动神经元发育的孟德尔病.

研究的目的:

  • 开发一个单细胞多原子框架,以识别头骨运动神经元 (cMN) 中的 cis 调节元件.
  • 在未解决的CCDD案件中提名候选非编码变体.
  • 建立一个可通用的框架,用于发现其他门德尔乱中的非编码变体.

主要方法:

  • 在胚胎小鼠模型中进行了集成的单细胞染色质可访问性,基因突变修饰和基因表达试验.
  • 产生了大约86,000个cMN和相关细胞类型的单细胞表观基因组概况.
  • 使用体内转基因检测验证了增强剂活性,并将cMN图谱应用于未解决的CCDD谱系的全基因组序列.

主要成果:

  • 确定了大约25万个可访问的监管元素和145,000个假定增强剂.
  • 验证了75%的测试元素,证明单细胞可访问性预测增强剂活性.
  • 提名的候选非编码变异调节已知的CCDD基因 (MAFB,PHOX2A,CHN1,EBF3) 和在反复突变增强剂中发现的变异.

结论:

  • 这项研究为发现CCDD中非编码变体提供了一个强大的框架.
  • 这些发现突显了在门德尔乱中非编码调节元件的重要性.
  • 开发的方法适用于更广泛的遗传疾病.