相关实验视频

Updated: Jun 5, 2025

Phage Therapy Application to Counteract Pseudomonas aeruginosa Infection in Cystic Fibrosis Zebrafish Embryos

Phage Therapy Application to Counteract Pseudomonas aeruginosa Infection in Cystic Fibrosis Zebrafish Embryos

Published on: May 12, 2020

由PMFBP1突变引起的受精精子综合征的发病因子

Huaqiang Xia¹, Juan Zhang¹, Wuyuan Mao¹

¹Reproductive Medicine Center, Zhuzhou Central Hospital, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, Hunan, 410120, China.

Basic and clinical andrology

|December 12, 2024

概括

在PMFBP1基因中发生的罕见遗传突变,通过阻止PMFBP1蛋白表达,导致阿克法尔精子综合征. 这项研究确定了一种特定的PMFBP1突变,该突变是导致这种严重的类精子症的原因.

科学领域:

遗传学遗传学是一个
生殖生物学生殖生物学
分子生物学分子生物学

背景情况:

大脑精子综合征是一种罕见的,严重的精子形症,怀疑是遗传基础.
之前的研究发现了一些突变,但对于许多患者来说,病变发生的原因尚不清楚.
遗传因素是由于Acephalic精子症候群的家族性质而涉及的.

研究的目的:

为了研究由PMFBP1基因突变引起的受精精精子综合征 (ASS) 的发病原因.
确定特定的遗传缺陷及其对蛋白质表达的影响.

主要方法:

桑格测序用于识别PMFBP1基因中的突变.
在精子中分析PMFBP1蛋白质表达的西部涂抹和免疫光学.
在体外建模,以证实已识别的突变的功能影响.
用RT-PCR分析与突变相关的RNA变化.

主要成果:

在PMFBP1基因中发现了一种同卵性拼接位突变 (NM_031293.2,c.2089-1G>T).
这种突变导致患者的精子中完全没有PMFBP1蛋白表达.
一个体外模型证实了这种突变导致PMFBP1.1的第15个表原体中的4个基对被删除.

结论:

在PMFBP1的同卵性拼接部位突变导致15号外因子中的4bp删除,从而消除PMFBP1蛋白表达.
缺少PMFBP1蛋白质是导致该患者患有形精子综合征的直接原因.
这项研究阐明了与PMFBP1.1.中的NM_031293.2,c.2089-1G>T突变相关的形精子综合征背后的分子机制.

关键词:

脑细胞精子症候群 (Acephalic spermatozoa syndrome) 是一种脑细胞精子症候群.聚胺调节的1因子结合蛋白1 (PMFBP1)结合部位突变的突变

更多相关视频

A FACS-based Protocol to Isolate RNA from the Secondary Cells of Drosophila Male Accessory Glands

A FACS-based Protocol to Isolate RNA from the Secondary Cells of Drosophila Male Accessory Glands

Published on: September 5, 2019

Phosphopeptide Analysis of Rodent Epididymal Spermatozoa

Phosphopeptide Analysis of Rodent Epididymal Spermatozoa

Published on: December 30, 2014

相关概念视频

Spermatogenesis

Spermatogenesis

Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...

Infertility in Males

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Fertilization

Fertilization

During fertilization, an egg and sperm cell fuse to create a new diploid structure. In humans, the process occurs once the egg has been released from the ovary, and travels into the fallopian tubes. The process requires several key steps: 1) sperm present in the genital tract must locate the egg; 2) once there, sperm need to release enzymes to help them burrow through the protective zona pellucida of the egg; and 3) the membranes of a single sperm cell and egg must fuse, with the sperm...