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Related Concept Videos

Nondisjunction01:21

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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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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.
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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Updated: Sep 28, 2025

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Alterations in synaptonemal complex coding genes and human infertility.

Fengguo Zhang1, Mengfei Liu1, Jinmin Gao1

  • 1Institute of Biomedical Sciences, College of Life Sciences, Key Laboratory of Animal Resistance Biology of Shandong Province, Shandong Normal University, Jinan, Shandong, 250014, China.

International Journal of Biological Sciences
|March 28, 2022
PubMed
Summary
This summary is machine-generated.

Genetic mutations in synaptonemal complex (SC) genes are linked to human infertility. Further research is needed to explore gene variants and environmental factors contributing to infertility.

Keywords:
Meiosisinfertilitynon-obstructive azoospermiapremature ovarian insufficiencysynaptonemal complex

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Cell Biology

Background:

  • Approximately 10% of reproductive-aged couples experience infertility, with largely unknown genetic causes.
  • Meiotic errors, particularly in synaptonemal complex (SC) assembly, are implicated in both male and female infertility.
  • The SC is crucial for homologous chromosome pairing, recombination, and accurate segregation during meiosis.

Purpose of the Study:

  • To summarize current findings on mutations in SC coding genes associated with human infertility.
  • To analyze SC gene variants in the general population and map their interaction networks.
  • To highlight the need for further investigation into combined genetic and environmental factors in infertility.

Main Methods:

  • Review of existing literature linking SC gene mutations to human infertility.
  • Analysis of population-based datasets for SC gene variants.
  • Construction of interaction networks for SC components.

Main Results:

  • Several mutations in SC coding genes have been identified as causes of human infertility.
  • Analysis revealed SC gene variants within the general population and complex associated interaction networks.
  • The study underscores the potential role of combined genetic and environmental influences.

Conclusions:

  • Mutations in synaptonemal complex genes represent a significant, though not fully understood, cause of human infertility.
  • Understanding SC gene variants and their interactions is key to unraveling infertility's genetic basis.
  • Future research should investigate the interplay between genetic predispositions and environmental factors in reproductive health.