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Related Concept Videos

Oogenesis02:07

Oogenesis

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In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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Related Experiment Video

Updated: May 10, 2025

Author Spotlight: Advancing Fertility Assessment with Z-Score-Based Follicle Density Evaluation in Cryopreserved Ovarian Tissue
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Author Spotlight: Advancing Fertility Assessment with Z-Score-Based Follicle Density Evaluation in Cryopreserved Ovarian Tissue

Published on: October 25, 2024

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From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

Bérénice Hervé1, Camille Verebi1, Marion Bonnier2

  • 1Service de Médecine Génomique Des Maladies de Système Et d'Organe, Hôpital Cochin, APHP.Centre Université de Paris Cité, 123 Boulevard de Port-Royal, 75014, Paris, France.

Reproductive Sciences (Thousand Oaks, Calif.)
|April 24, 2025
PubMed
Summary
This summary is machine-generated.

Genetic factors, including BMP15 gene variants, are linked to premature ovarian insufficiency (POI). This study clarifies the pathogenicity of BMP15 variants, finding homozygous loss-of-function variants pathogenic and most heterozygous missense variants benign.

Keywords:
BMP15PenetrancePremature ovarian insufficiency

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Fertility Preservation in Patients with Severe Ovarian Dysfunction
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Area of Science:

  • Genetics
  • Reproductive Biology
  • Genomics

Background:

  • Premature ovarian insufficiency (POI) affects approximately 1% of women before age 40.
  • Genetic factors are significant contributors to POI development.
  • The role and impact of BMP15 gene variants in POI remain incompletely understood.

Purpose of the Study:

  • To investigate the pathogenicity and penetrance of BMP15 gene variants in a cohort of patients with POI/diminished ovarian reserve (DOR).
  • To compare the frequency of BMP15 variants in POI patients with the general population.
  • To identify specific BMP15 variants associated with POI and assess their inheritance patterns.

Main Methods:

  • Next-generation sequencing of the entire coding region of the BMP15 gene in 500 patients with POI/DOR.
  • Frequency analysis of identified BMP15 variants compared to general population data, considering ethnicity.
  • Segregation analysis to determine the inheritance of variants within families.

Main Results:

  • Eleven distinct BMP15 variants were identified, including one pathogenic nonsense variant.
  • Over 10% (10.8%) of the POI cohort carried at least one BMP15 variant.
  • Two missense variants showed significant overrepresentation in POI patients compared to controls; one homozygous loss-of-function variant was identified and inherited from healthy parents.

Conclusions:

  • The majority of heterozygous BMP15 missense variants are likely benign.
  • Homozygous loss-of-function BMP15 variants are pathogenic for POI.
  • Some BMP15 missense variants may represent variants of uncertain significance with low penetrance, primarily deleterious in homozygous or compound heterozygous states.