相关实验视频
Updated: Jun 12, 2025

08:40
Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
8.6K
患者的基因组中的DNA甲基化变化 患有性性性性症的患者
Erina Suzuki1, Kazuhiko Nakabayashi2, Saki Aoto3
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Heliyon
|September 23, 2024
概括
按性腺特异性性腺症 (HH) 患者表现出多种DNA甲基化变化,不一致的疾病特异性表征. 在ZNF245促进剂高甲基化和HH之间的潜在联系需要进一步调查.
科学领域:
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 门德尔神经发育障碍可以表现出特定的DNA甲基化变化 (epi签名).
- 目前尚不清楚其他遗传性疾病是否具有一致的表观特征.
- 阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高性阴高
研究的目的:
- 为了研究患有低阴性性性阴性症 (HH) 的患者的DNA甲基化概况.
- 为了确定HH是否与特定疾病的DNA甲基化变化 (epi签名) 有关.
主要方法:
- 在9名HH患者和对照中使用微阵列进行全基因组DNA甲基化分析.
- 在一个更大的HH患者队列中,针对选定的CpG位点进行有针对性的火烧测序.
- 在HH患者和肥沃男性之间比较甲基化概况.
主要成果:
- 在HH患者中观察到显著但高度可变的DNA甲基化差异.
- 在与致病性HH基因相关的基因 (ANOS1,SOX2,SOX10) 中没有发现一致的表皮特征.
- 在三名HH患者中观察到ZNF245促进剂高甲基化的罕见发现.
结论:
- HH患者表现出相当大的DNA甲基化变化,可能代表生理变异,而不是疾病特异性的表征.
- 观察到的ZNF245促进剂高甲基化可能与HH有关,需要进一步研究.
- 这项研究凸显了遗传疾病中表观遗传修饰的复杂性.
相关概念视频
Epigenetic Regulation
3.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.0K
Genomic Imprinting and Inheritance
34.1K
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...
34.1K
Inheritance of Chromatin Structures
6.2K
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
6.2K
Histone Modification
13.1K
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
13.1K
Phase II Reactions: Methylation Reactions
156
Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
156
Heterochromatin
11.6K
The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at...
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at...
11.6K

