生物性别影响人类基因组中的功能变异
Angela G Jones1,2, Guinevere G Connelly1,2, Trisha Dalapati1
1Department of Molecular Genetics and Microbiology, School of Medicine, Duke University; Durham, NC, USA.
medRxiv : the preprint server for health sciences
|September 16, 2024
概括
遗传因素显著影响人类的性变异和疾病风险. 这项研究确定了许多与各种健康状况相关的性别偏差表达量化特征位点 (sb-eQTL).
科学领域:
- 遗传学 遗传学是一种遗传学.
- 免疫学 免疫学 免疫学
- 基因组学就是基因组学.
背景情况:
- 性二态性在人类中很普遍,但它的遗传基础和疾病影响仍然在很大程度上未被探索.
- 了解性别偏差基因表达对于解读健康和疾病中的性别差异至关重要.
研究的目的:
- 为了研究推动基因表达中的性二态的遗传机制.
- 识别性别偏差表达量的特征位点 (sb-eQTL) 和它们与人类疾病的关联.
主要方法:
- 分析来自480个淋巴细胞类细胞系的单细胞RNA测序数据.
- 开发一种新的两步回归方法来检测全基因组的sb-eQTL.
- 用全基因组关联研究 (GWAS) 现型对 sb-eQTL 的丰富分析.
主要成果:
- 大多数 (79%) 的性别偏差基因是由性别偏差的转录因子调节的.
- 确定了10754个显著和可重复的sb-eQTL.
- sb-eQTL具有超过600个GWAS表型,包括多发性硬化症.
结论:
- 广泛的遗传影响有助于人类的两性变异.
- 已识别的sb-eQTL为性别特异性疾病变异提供了潜在的机制和临床点.
- 这项研究为了解对性别健康差异的遗传贡献提供了基础.
更多相关视频
相关概念视频
The Ratio of X Chromosome to Autosomes
8.5K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.5K
X and Y Chromosomes
23.8K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
23.8K
The Y Chromosome Determines Maleness
6.5K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.5K
Genetic Variation
271
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
271
X-linked Traits
54.3K
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”.
54.3K
Natural Selection and Mating Preferences
98
The principle of natural selection posits that organisms better adapted to their environment are more likely to survive and reproduce. This principle is closely intertwined with mating preferences, a key aspect of sexual selection, which evolutionary psychologists believe is driven by instincts to propagate one's genes. Such instincts significantly influence mating behaviors and preferences between genders.
Females, due to their biological roles in conception, pregnancy, and nursing,...
Females, due to their biological roles in conception, pregnancy, and nursing,...
98


