艾克斯无活化概况揭示了女性X链基因表达的广泛变异性
Laura Carrel1, Huntington F Willard
1Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA. lcarrel@psu.edu
Nature
|March 18, 2005
概括
一个X染色体上的大多数基因在雌性哺乳动物中被沉默. 然而,大约15%的X链基因逃脱了这个过程,导致女性表达的变化.
科学领域:
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 人类生物学 人类生物学
背景情况:
- 在雌性哺乳动物中,X染色体失活 (XCI) 会使一个X染色体上的大多数基因沉默.
- 脱离XCI的基因可以影响性二态特征和遗传障碍的变异性.
- 了解XCI逃逸对于理解女性特异性生物学和疾病至关重要.
研究的目的:
- 创建一个全面的人类X染色体X无活化概况.
- 为了识别逃脱XCI的基因并量化它们的表达模式.
- 为了研究 XCI 逃逸在人类 X 染色体中的区域差异.
主要方法:
- 在人类纤维细胞细胞系统中分析X无活化模式.
- 在人类X染色体上分析大约95%的可测量基因.
- 从活跃和不活跃的X染色体中量化基因表达.
主要成果:
- 大约15%的X链基因显示出某种程度的脱离XCI.
- 显著比例的X链基因 (约10%) 呈现出可变的XCI模式.
- 来自XCI的基因逃逸在不同染色体区域之间有很大的差异.
结论:
- 相当多的人类X相关基因逃脱了X染色体不活化.
- 女性表达的异质性比以前认为的更为普遍.
- 在XCI逃逸的区域差异可能反映了性染色体的进化历史.
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相关概念视频
X-linked Traits
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”.
X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Inheritance of Chromatin Structures
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 DNA...
X-linked Traits
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”.
Dosage Compensation
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
