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

Pleiotropy01:33

Pleiotropy

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,...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

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 sister...
Sex-linked Disorders01:43

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.
Meiosis I03:09

Meiosis I

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...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...

You might also read

Related Articles

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

Sort by
Same author

Bioinstructive Hybrid Scaffold Integrating Phosphoinositide 3-Kinase-Akt and Complementary Survival Pathways for Kidney Regeneration.

ACS nano·2026
Same author

Ovarian function is required for functional recovery of muscle by human ESC-derived mesenchymal progenitor cells in postmenopausal sarcopenic mice.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026
Same author

Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.

HGG advances·2026
Same author

The N-degron pathway regulates glucose and insulin homeostasis through the lysosomal degradation of RXRA/RXRα via SQSTM1/p62.

Autophagy·2026
Same author

HMMER web server: 2026 update.

Nucleic acids research·2026
Same author

Prospective Genomic Profiling of Consecutive Meningiomas.

JAMA oncology·2026

Related Experiment Video

Updated: Jun 12, 2026

Single Oocyte Bisulfite Mutagenesis
13:18

Single Oocyte Bisulfite Mutagenesis

Published on: June 27, 2012

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Youngsok Choi1, Sanghyun Jeon, Mikyung Choi

  • 1Department of Biomedical Science, CHA University, Seoul, Republic of Korea. shshim@cha.ac.kr

Human Mutation
|May 28, 2010
PubMed
Summary

A splice-acceptor site mutation in the SOHLH1 gene disrupts spermatogenesis, leading to nonobstructive azoospermia (NOA). This study identified novel SOHLH1 variations in NOA patients, revealing a truncated protein that impairs crucial gene regulation.

More Related Videos

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

Analysis of Chromosome Segregation, Histone Acetylation, and Spindle Morphology in Horse Oocytes
12:11

Analysis of Chromosome Segregation, Histone Acetylation, and Spindle Morphology in Horse Oocytes

Published on: May 11, 2017

Related Experiment Videos

Last Updated: Jun 12, 2026

Single Oocyte Bisulfite Mutagenesis
13:18

Single Oocyte Bisulfite Mutagenesis

Published on: June 27, 2012

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

Analysis of Chromosome Segregation, Histone Acetylation, and Spindle Morphology in Horse Oocytes
12:11

Analysis of Chromosome Segregation, Histone Acetylation, and Spindle Morphology in Horse Oocytes

Published on: May 11, 2017

Area of Science:

  • Reproductive Biology
  • Genetics
  • Molecular Biology

Background:

  • Spermatogenesis and oogenesis-specific basic helix-loop-helix 1 (SOHLH1) is a key transcription factor for spermatogonial differentiation.
  • SOHLH1 is implicated as a potential cause of testicular failure, including nonobstructive azoospermia (NOA).

Purpose of the Study:

  • To investigate mutations in the SOHLH1 gene in Korean patients diagnosed with nonobstructive azoospermia (NOA).
  • To elucidate the functional consequences of identified SOHLH1 variations on spermatogenesis.

Main Methods:

  • Sequence analysis of the SOHLH1 gene in 96 Korean NOA patients.
  • In vivo and in vitro assays, including minigene splicing analysis and transient transfection assays, were used to assess mutation effects.
  • Analysis of KIT promoter activity was performed using SOHLH1 mutants.

Main Results:

  • Three novel SOHLH1 variations were identified: one intronic (c.346-1G>A) and two nonsynonymous exonic (c.91T>C, c.529C>A).
  • The intronic variant (c.346-1G>A) caused aberrant splicing, leading to a truncated SOHLH1 protein lacking a functional basic helix-loop-helix (bHLH) domain.
  • The truncated SOHLH1 mutant significantly disrupted KIT promoter activity, while missense mutations showed no significant effect.

Conclusions:

  • A splice-acceptor site mutation in SOHLH1, resulting in a nonfunctional truncated protein, is a likely cause of nonobstructive azoospermia due to impaired spermatogenesis.
  • SOHLH1 mutations represent a significant genetic factor contributing to male infertility.