在人类女性生殖系中印记的全球性疾病
Hannah Judson1, Bruce E Hayward, Eamonn Sheridan
1University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.
Nature
|April 5, 2002
概括
一个新发现的母性效应突变导致全球印记缺陷,影响多个基因. 这导致异常发育,类似于水性形,为印记因素提供了洞察力.
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.
- 发展生物学 发展生物学
背景情况:
- 印记的基因表现出父系特异性表达,这对正常发育至关重要.
- 印记机构的缺陷导致人类遗传综合征,通常涉及cis作用元素.
- 以前的印记缺陷影响了连续的基因组区域.
研究的目的:
- 报告一本小说遗传的全球印制缺陷.
- 为了研究一种衰退的母性效应突变,破坏在多个位置的印记.
- 为了确定涉及母体印记的跨作用卵细胞因子.
主要方法:
- 对一个衰退的母亲效应突变的分析.
- 在多个不连续的印记位置上表观遗传修饰的表征.
- 由此产生的概念的表型评估.
主要成果:
- 突变导致全球印记缺陷,改变多个位置的表观遗传模式.
- 母性印记基因在母性等位基因上采用了父亲的表观遗传模式.
- 怀孕表现出与androgenetic完整的hydatidiform子无法区分的表型.
结论:
- 这种疾病代表了第一个描述的遗传全球印记缺陷.
- 它提供了一种基因模型,用于研究母体印记中的转作用因子.
- 了解这种缺陷有助于识别卵细胞因子,这些因子对于印记的建立至关重要.
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Imprinting
Behavioral imprinting is observed in some newborn animals and occurs when they develop strong and specific attachments to another animal (usually a parent) following brief, early-life exposures. Offspring imprint onto parents within a brief period after birth or hatching; this time window is called the critical period. Once imprinting occurs, the bond established between the parents and their offspring is usually long-lasting.
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.
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Genomic Imprinting and Inheritance
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...
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.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
