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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,...
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Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Loss of Tumor Suppressor Gene Functions

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.
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Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
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Related Experiment Video

Updated: May 25, 2026

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
11:46

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

Published on: May 26, 2014

FOXL2 impairment in human disease.

Hannah Verdin1, Elfride De Baere

  • 1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Hormone Research in Paediatrics
|January 18, 2012
PubMed
Summary

Genetic defects in FOXL2 cause blepharophimosis syndrome (BPES) with ovarian issues and ovarian tumors. Foxl2 also prevents adult ovary-to-testis transformation, impacting reproductive health.

Area of Science:

  • Genetics
  • Developmental Biology
  • Reproductive Medicine

Background:

  • The FOXL2 gene encodes a crucial transcription factor for ovarian development and function.
  • FOXL2 mutations are linked to blepharophimosis syndrome (BPES) and premature ovarian failure (POF).
  • Somatic FOXL2 mutations are implicated in ovarian granulosa cell tumors.

Purpose of the Study:

  • To review the clinical significance of FOXL2 gene alterations in human diseases.
  • To explore the role of FOXL2 in ovarian pathology and its implications for reproductive disorders.
  • To highlight recent findings on FOXL2's anti-testis function in the adult ovary.

Main Methods:

  • Analysis of human genetic data for FOXL2 mutations and regulatory defects.
  • Review of animal models (knock-out mice, Polled Intersex Syndrome goats) for BPES and ovarian pathology.

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  • Functional studies on FOXL2 mutation consequences and gene regulation.

    • Main Results:

    • Over 100 constitutional FOXL2 mutations cause BPES with or without POF.
    • A specific somatic mutation (p.C134W) is associated with ovarian granulosa cell tumors.
    • Conditional Foxl2 knockout in mice induces ovary-to-testis transdifferentiation, revealing an anti-testis role.

    Conclusions:

    • FOXL2 mutations contribute to developmental disorders and cancers, with significant genotype-phenotype correlations.
    • FOXL2 plays a critical role in maintaining ovarian identity and preventing sex-reversal in adults.
    • Understanding FOXL2 function may offer new therapeutic avenues for POF and polycystic ovary syndrome.