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

Infertility in Males01:23

Infertility in Males

295
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...
295
Infertility in Females01:28

Infertility in Females

348
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...
348
Spermatogenesis01:41

Spermatogenesis

102.6K
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...
102.6K

You might also read

Related Articles

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

Sort by
Same author

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.

Frontiers in neurology·2026
Same author

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026
Same author

Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.

Journal of autism and developmental disorders·2026
Same author

Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's Disease.

Genes·2026
Same author

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Clinical genetics·2026
Same author

Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.

American journal of medical genetics. Part A·2026

Related Experiment Video

Updated: Jul 17, 2025

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
08:48

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Published on: April 21, 2022

2.5K

Transcriptomic signatures for human male infertility.

Alenka Hodžić1, Aleš Maver1, Branko Zorn2

  • 1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Frontiers in Molecular Biosciences
|September 6, 2023
PubMed
Summary

This study identified key genes involved in male infertility by analyzing gene expression in patient samples and existing studies. Four genes were highlighted, with three additional candidates identified for further research into male reproductive health.

Keywords:
gene expresionidiopathic male infertilityspermatogenesistestistranscriptome

More Related Videos

Isolate Cell-Type-Specific RNAs from Snap-Frozen Heterogeneous Tissue Samples without Cell Sorting
08:30

Isolate Cell-Type-Specific RNAs from Snap-Frozen Heterogeneous Tissue Samples without Cell Sorting

Published on: December 8, 2021

2.2K
Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

8.2K

Related Experiment Videos

Last Updated: Jul 17, 2025

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
08:48

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Published on: April 21, 2022

2.5K
Isolate Cell-Type-Specific RNAs from Snap-Frozen Heterogeneous Tissue Samples without Cell Sorting
08:30

Isolate Cell-Type-Specific RNAs from Snap-Frozen Heterogeneous Tissue Samples without Cell Sorting

Published on: December 8, 2021

2.2K
Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

8.2K

Area of Science:

  • Genetics
  • Reproductive Biology
  • Genomics

Background:

  • Male infertility affects a significant portion of the population, necessitating a deeper understanding of its genetic underpinnings.
  • Idiopathic male infertility, where the cause is unknown, requires advanced molecular investigation for improved diagnosis and treatment strategies.

Purpose of the Study:

  • To identify genes contributing to the pathogenesis of idiopathic male infertility using integrated transcriptomic and genomic data.
  • To pinpoint specific genes associated with impaired spermatogenesis through comprehensive data analysis.

Main Methods:

  • Whole gene expression analysis was conducted on testis biopsy samples from patients with severely impaired and normal spermatogenesis.
  • A systematic review of existing male infertility microarray studies was performed, followed by overlapping gene expression data.
  • Gene Ontology and KEGG functional enrichment analyses were utilized, alongside intersection with genes harboring rare variants.

Main Results:

  • Over 1,800 differentially expressed genes were identified in patients with impaired spermatogenesis compared to controls (p < 0.001).
  • A systematic review and overlap with three microarray studies yielded 257 differentially expressed genes (144 downregulated, 113 upregulated).
  • The intersection of transcriptomic data with genes featuring rare variants identified seven candidate genes linked to male infertility, including CYP11A1, CYP17A1, RSPH3, TSGA10, AKAP4, CCIN, and NDNF.

Conclusions:

  • The study highlights the significant role of four genes in the pathogenesis of male infertility.
  • Supporting evidence was provided for three additional candidate genes whose dysfunction may lead to male infertility disorders.