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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...
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Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure.

Thomas Eggermann1

  • 1Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.

Geburtshilfe Und Frauenheilkunde
|July 23, 2021
PubMed
Summary

Maternal effect mutations in subcortical maternal complex (SCMC) proteins are a newly identified cause of reproductive failure. Identifying these genetic alterations in women is crucial for personalized genetic counseling and reproductive care.

Keywords:
hydatidiform molematernal effect mutationmiscarriagesmultilocus imprinting disturbancenext generation sequencingsubcortical maternal complex

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Area of Science:

  • Reproductive biology
  • Human genetics
  • Developmental biology

Background:

  • Genetic factors, including monogenic, chromosomal, and epigenetic disturbances, are key causes of reproductive failure.
  • While fetal genetic contributions are known, the role of maternal genome alterations was less understood.
  • Next-generation sequencing (NGS) has advanced the study of genetic causes of reproductive complications.

Purpose of the Study:

  • To identify and characterize maternal effect variants as a novel cause of human reproductive failure.
  • To understand the impact of maternal genome alterations on oocyte maturation and early embryonic development.
  • To highlight the importance of diagnosing maternal SCMC gene variants for reproductive and genetic counseling.

Main Methods:

  • Utilized next-generation sequencing (NGS) based approaches for comprehensive genetic analysis.
  • Identified maternal effect variants impacting subcortical maternal complex (SCMC) proteins.
  • Analyzed the consequences of these variants on reproductive outcomes.

Main Results:

  • Discovered maternal effect mutations as a new cause of reproductive failure.
  • Demonstrated that these mutations disrupt oocyte maturation and early embryo progression by affecting SCMC proteins.
  • Linked these mutations to various pregnancy complications, including infertility, miscarriages, hydatidiform moles, aneuploidies, and fetal imprinting disturbances.

Conclusions:

  • Maternal effect variants in SCMC genes represent a significant, previously underappreciated cause of reproductive failure.
  • Diagnostic application of NGS assays is essential for identifying these variants.
  • Personalized reproductive and genetic counseling requires the identification of women carrying these specific molecular alterations.
  • Interdisciplinary collaboration is vital for advancing understanding and clinical application in early embryo development.