Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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 reproductive...

Spermatogenesis

Spermatogenesis

Spermatogenesis is a complex process that involves the development of sperm cells from undifferentiated stem cells in the seminiferous tubules of the testes. The process is essential for the production of mature and functional sperm cells that are capable of fertilizing an egg.
The process of spermatogenesis can be divided into mitosis, meiosis, and spermiogenesis. During mitosis, the spermatogonia or stem cells divide to produce two identical daughter cells, type A and B spermatogonia. Type-A...

The Y Chromosome Determines Maleness

The Y Chromosome Determines Maleness

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. Today,...

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

You might also read

Related Articles

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

Sort by

Same author

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Stem cell research·2026

Same author

A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria.

Human reproduction (Oxford, England)·2026

Same author

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Frontiers in genetics·2026

Same author

A recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.

Journal of assisted reproduction and genetics·2026

Same author

Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants.

Stem cell research·2026

Same author

No role of intronic expansions in HSF1 for essential tremor in Europe.

Brain : a journal of neurology·2026

Search research articles

Related Experiment Video

Updated: May 20, 2026

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

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

Published on: March 1, 2019

Autosomal mutations and human spermatogenic failure.

Elias El Inati¹, Jean Muller, Stéphane Viville

¹Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.

Biochimica Et Biophysica Acta

|July 31, 2012

Summary

This summary is machine-generated.

Male infertility is a significant global health issue, with many cases remaining unexplained due to limited understanding of reproductive genetics. Further research is crucial for developing new genetic tests for infertility diagnosis.

More Related Videos

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Published on: August 6, 2014

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Published on: April 21, 2022

Related Experiment Videos

Last Updated: May 20, 2026

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

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

Published on: March 1, 2019

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Published on: August 6, 2014

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Published on: April 21, 2022

Area of Science:

Reproductive Biology
Human Genetics
Medical Research

Background:

Infertility affects a substantial portion of the global population, with male factors contributing to at least half of cases.
A significant percentage of infertility cases (25-30%) remain idiopathic despite assisted reproductive technologies, highlighting gaps in understanding gametogenesis.
Limited knowledge of non-syndromic genetic causes of human infertility contrasts with numerous mouse models, indicating a need for focused research in human male reproductive genetics.

Purpose of the Study:

To address the limited understanding of male reproductive genetics in human infertility.
To outline the requirements and methodologies for conducting informative genetic studies in infertility.
To review current findings and future prospects in the genetic diagnosis of infertility.

Main Methods:

Review of existing literature on human male reproductive genetics.
Analysis of requirements for effective genetic studies in infertility.
Compilation of current techniques and results in the field.

Main Results:

Few non-syndromic genetic causes of human infertility have been identified compared to other pathologies.
There is a significant disparity between the number of genetic mouse models of infertility and identified human genetic causes.
Current genetic testing options for infertile couples are limited.

Conclusions:

A deeper understanding of male gametogenesis mechanisms is essential for addressing idiopathic infertility.
Advancements in human genetics research are expected to yield new diagnostic genetic tests for infertility.
Systematic genetic studies are required to improve the diagnosis and management of male infertility.