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

Transducer Mechanism: Nuclear Receptors01:31

Transducer Mechanism: Nuclear Receptors

Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
Regulation of Nuclear Protein Sorting01:45

Regulation of Nuclear Protein Sorting

Nuclear protein sorting regulates nucleus composition and gene expression, crucial for determining the fate of a eukaryotic cell. Hence, the entry and exit of molecules across the nuclear envelope is a tightly controlled process. Nuclear protein sorting can be inhibited by one of the following ways: 1) masking cargo signal sequences, 2) modifying the nuclear receptor's affinity for cargo, 3) controlling the nuclear pore size, 4) retaining the cargo during its transit to the cytosol or the...
NF-kB-dependent Signaling Pathway02:26

NF-kB-dependent Signaling Pathway

The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The heterodimer of NF-κB...
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors are of three kinds RI, RII, and RIII. The RI...
General Transcription Factors01:30

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...

You might also read

Related Articles

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

Sort by
Same author

Variations of sex development: The first German interdisciplinary consensus paper.

Journal of pediatric urology·2019
Same author

Gonadal function in adult male patients with congenital adrenal hyperplasia.

European journal of endocrinology·2018
Same author

Phase transformation in AFM silicon tips.

Nanotechnology·2017
Same author

[In vivo imaging of the corneal nerve plexus : From single image to large scale map].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2017
Same author

Comparative quantitative assessment of the human corneal sub-basal nerve plexus by in vivo confocal microscopy and histological staining.

Eye (London, England)·2016
Same author

Study of mechanical behavior of AFM silicon tips under mechanical load.

Nanotechnology·2016

Related Experiment Video

Updated: Jun 11, 2026

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

Update--steroidogenic factor 1 (SF-1, NR5A1).

B Köhler1, J C Achermann

  • 1Department of Pediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Augustenburger Platz 1, Berlin, Germany. birgit.koehler@charite.de

Minerva Endocrinologica
|July 3, 2010
PubMed
Summary

Steroidogenic factor 1 (SF1) mutations cause disorders of sex development in 46,XY individuals and primary ovarian insufficiency in 46,XX females. Gonadal development is more sensitive to SF1 haploinsufficiency than adrenal development.

Related Experiment Videos

Last Updated: Jun 11, 2026

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

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Biology

Background:

  • Steroidogenic factor 1 (SF1, NR5A1) is crucial for adrenal and gonadal development.
  • Nr5a1 deletion in mice causes adrenal/gonadal agenesis and female genitalia.
  • NR5A1 mutations are linked to human disorders of sex development (DSD) and primary ovarian insufficiency (POI).

Purpose of the Study:

  • To review the role of SF1 (NR5A1) in human adrenal and gonadal development.
  • To summarize phenotypes associated with NR5A1 mutations in 46,XY DSD and 46,XX POI.
  • To discuss clinical implications and future research directions for NR5A1-related conditions.

Main Methods:

  • Literature review of studies on SF1/NR5A1 function and mutations.
  • Analysis of clinical phenotypes in patients with NR5A1 mutations.
  • Synthesis of findings regarding SF1's role in human development.

Main Results:

  • Heterozygous NR5A1 mutations are found in ~15% of 46,XY DSD patients with underandrogenization and partial testicular dysgenesis.
  • Phenotypes range from severe ambiguity to mild hypospadias/cryptorchidism, with variable gonadal function (low testosterone, inhibin B, AMH).
  • NR5A1 mutations also cause familial/sporadic 46,XX primary ovarian insufficiency without adrenal failure, indicating gonadal sensitivity to haploinsufficiency.

Conclusions:

  • SF1 is essential for human testis and ovarian development; gonadal development is more susceptible to SF1 haploinsufficiency than adrenal development.
  • 46,XY DSD patients with mild underandrogenization may be assigned male, with potential for puberty virilization, but long-term fertility, malignancy, and adrenal risks are unknown.
  • NR5A1 mutations highlight SF1's critical role in human reproductive axis development and function.