Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Oogenesis02:07

Oogenesis

71.4K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
71.4K
Nondisjunction01:21

Nondisjunction

5.8K
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...
5.8K
Disorders of the Female Reproductive System01:24

Disorders of the Female Reproductive System

4.8K
The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...
4.8K
Meiosis I03:09

Meiosis I

46.7K
Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
46.7K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K
Meiosis II02:02

Meiosis II

51.7K
Meiosis II entails cell division and segregation of the sister chromatids, resulting in the production of four unique haploid gametes. The steps for meiosis II are similar to mitosis, except that meiosis II occurs in haploid cells, whereas mitosis occurs in diploid cells.
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...
51.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Ozone induced pulmonary injury and respiratory dysfunction: Evidence, underlying mechanism and target investigation.

Environmental pollution (Barking, Essex : 1987)·2026
Same author

Comparative analysis of quantitative fundus results of the left and right eyes and screening for coronary atherosclerotic disease: a binocular study.

Eye (London, England)·2026
Same author

Impact of a comprehensive healthy lifestyle and genetic risk on arrhythmia: insights from the UK biobank study.

BMC cardiovascular disorders·2026
Same author

Correlation between the triglyceride-glucose index and retinal vascular parameters in the fundus: a cross-sectional study.

PeerJ·2026
Same author

mTOR-NAA10-C7orf50 axis senses nutritional status to coordinate ribosome biogenesis and autophagy.

Science advances·2026
Same author

Preparation and Mechanistic Characterization of α-Glucosidase Inhibitory Peptides from <i>Elaeagnus mollis</i> Oilseed Meal.

Foods (Basel, Switzerland)·2026

Related Experiment Video

Updated: Apr 6, 2026

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome
04:49

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome

Published on: July 5, 2024

2.0K

CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

Yingying Qin1, Ting Guo1, Guangyu Li1

  • 1Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China.

Plos Genetics
|July 29, 2015
PubMed
Summary

Genetic mutations in the CSB-PGBD3 fusion gene are linked to premature ovarian failure (POF). This discovery sheds light on the DNA repair mechanisms involved in POF development.

More Related Videos

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
08:20

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

12.1K
Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation
05:42

Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation

Published on: October 25, 2024

1.7K

Related Experiment Videos

Last Updated: Apr 6, 2026

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome
04:49

Author Spotlight: Investigating the Mechanisms and Inducing Models of Polycystic Ovary Syndrome

Published on: July 5, 2024

2.0K
A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
08:20

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

12.1K
Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation
05:42

Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation

Published on: October 25, 2024

1.7K

Area of Science:

  • Genetics
  • Molecular Biology
  • Reproductive Medicine

Background:

  • Premature ovarian failure (POF) affects women before age 40, with genetic factors implicated in about 25% of cases.
  • Most POF cases are sporadic and lack a clear genetic cause, highlighting the need for further research.

Observation:

  • Whole exome and Sanger sequencing were used to analyze affected individuals from a family with POF and sporadic cases.
  • Three novel mutations were identified in the CSB-PGBD3 fusion gene in patients with POF.

Findings:

  • Mutated CSB-PGBD3 fusion protein showed impaired DNA damage response, with delayed or absent recruitment to damaged sites.
  • This is the first evidence linking CSB-PGBD3 mutations to human disease, even with functional CSB present.
  • The fusion protein's localization to DNA repair foci suggests its role in DNA repair pathways.

Implications:

  • The findings provide a new genetic cause for premature ovarian failure, expanding our understanding of its etiology.
  • This research may explain the evolutionary conservation of the CSB-PGBD3 fusion protein.
  • Understanding the role of CSB-PGBD3 in DNA repair could lead to new diagnostic or therapeutic strategies for POF.