对健康的老双胞胎皮肤甲基组的遗传影响
Christopher J Shore1, Sergio Villicaña1, Julia S El-Sayed Moustafa1
1Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
American journal of human genetics
|August 13, 2024
概括
皮肤DNA甲基化的遗传基础不如其他组织那么容易遗传. 遗传变异影响皮肤DNA甲基化,影响基因表达,并可能导致黑色素瘤等皮肤疾病.
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.
- 人类遗传学 人类遗传学
- 皮肤病学 皮肤病学
背景情况:
- 全皮DNA甲基化变异与黑色素瘤等疾病有关.
- 皮肤DNA甲基化的遗传基础尚未完全理解.
研究的目的:
- 描述人类皮肤中DNA甲基化变异的遗传基础.
- 为了研究皮肤甲基瘤的遗传性和遗传调节.
- 探索遗传影响对皮肤DNA甲基化的功能后果及其与皮肤疾病相关性的研究.
主要方法:
- 基于双胞胎的遗传性和甲基化定量特征位点 (meQTL) 分析是在从414名英国女双胞胎的散装皮肤组织上进行的.
- 皮肤表达量化特征位点 (eQTL) 分析对604名女性双胞胎进行.
- 使用局部化和调解分析来整合meQTL,eQTL和基因表达数据.
主要成果:
- 发现人类皮肤DNA甲基组的平均遗传率比血液或其他组织低 (10.02%).
- 在meQTL分析中,在18.8%的CpG位点发现了局部遗传效应,在1775个CpG位点发现了远端效应.
- 在DNA甲基化和基因表达之间发现了超过3,500个共同的遗传效应,其中114个基因显示甲基化介导的eQTL效应,包括ALOX12和CSPG4.
- 皮肤meQTL和受遗传影响的CpG被丰富为与黑色素瘤和牛皮有关的全基因组和全表观基因组关联信号.
结论:
- 皮肤DNA甲基化的遗传调节是复杂的,涉及到本地和远程遗传变异.
- 基因甲基化在调解皮肤基因表达的遗传影响方面发挥着作用.
- 影响皮肤DNA甲基化的遗传变异与皮肤疾病的发病相关,包括黑色素瘤和牛皮.
相关概念视频
The Effect of Aging on Tissues
2.1K
Several body functions deteriorate with age. The external signs of aging are easily identifiable. For example, the skin becomes dry, less elastic, and thins out, forming wrinkles. The skin of the face begins to appear looser due to a decrease in the levels of elastic and collagen fibers in the connective tissue. Additionally, melanin production in the hair follicle decreases with age, resulting in gray hair. Moreover, the senses of sight and hearing decline, so glasses and hearing aids may...
2.1K
Gene-Environment Interactions
270
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
270
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
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
Genomic Imprinting and Inheritance
34.2K
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...
34.2K
Pleiotropy
40.3K
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,...
40.3K


