HOXD10:一种新型基因涉及到人类的梅勒里亚管异常
Shuya Chen1, Yujun Sun1, Yali Fan1
1Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Dongcheng, Beijing 100006, China.
European journal of obstetrics, gynecology, and reproductive biology
|February 23, 2025
概括
一种新的HOXD10基因变异 (p.S80R) 与米勒尔管异常 (MDAs) 有关,为这些女性生殖道形的遗传原因提供了新的见解.
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 发展生物学 发展生物学
背景情况:
- 梅勒氏管异常 (MDAs) 是女性生殖道的先天性形.
- 遗传因素越来越多地被认为是MDA发展的贡献者.
- 整体外因子测序 (WES) 为遗传研究提供了先进的方法.
研究的目的:
- 识别与米勒里亚管异常 (MDAs) 相关的新型遗传变异.
- 调查新发现的HOXD10变种的致病性和功能影响.
主要方法:
- 在97名患有MDAs的患者中进行了全外体测序 (WES).
- 一种新的HOXD10变种 (c.238A>C,p.S80R) 被确定并与对照进行选.
- 在分析中,分子动力学模拟和RNA测序被用于评估病原性和机制.
主要成果:
- 鉴定HOXD10 p.S80R变体在一个患有完全隔膜子宫,子宫和阴道隔膜的患者中,在100个对照组中缺席.
- 在和分子动力学模拟表明,该变体改变了HOXD10蛋白质的构造和稳定性.
- RNA测序揭示了p.S80R变体废除了HOXD10对IFIT1,IFIT2和IFIT3的抑制作用,导致细胞异常状态.
结论:
- 这项研究报告了首次发现的HOXD10 p.S80R变体,与Mullerian导管异常 (MDAs) 相关.
- 这些发现为MDAs的分子遗传基础提供了新的理解.
- 这种HOXD10 p.S80R变异代表了MDAs病因中的潜在的新遗传因素.
相关概念视频
Hedgehog Signaling Pathway
7.3K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.3K
Pleiotropy
39.5K
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,...
39.5K
Development of the Sexual Organs in the Embryo and Fetus
496
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
496
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
The Ratio of X Chromosome to Autosomes
8.4K
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...
8.4K
Dosage Compensation
6.1K
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...
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...
6.1K


