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Related Concept Videos

Infertility in Males01:23

Infertility in Males

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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Spermatogenesis01:41

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Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
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Nondisjunction01:21

Nondisjunction

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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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Background and Environment Affect Phenotype02:27

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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

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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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Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
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Epigenetics, cryptorchidism, and infertility.

Faruk Hadziselimovic1, Gilvydas Verkauskas2, Michael B Stadler3,4

  • 1Cryptorchidism Research Institute, Children's Day Care Center, 4410, Liestal, Switzerland. faruk@magnet.ch.

Basic and Clinical Andrology
|September 20, 2023
PubMed
Summary

Cryptorchid boys with impaired sperm development show altered gene expression. Treatment can normalize histone modifications, promoting sperm differentiation and potentially restoring fertility in infertile males.

Keywords:
Chromatin remodelerCryptorchidismEpigeneticGnRHaInfertilityLinc RNAMethyltransferase

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Area of Science:

  • Reproductive Endocrinology
  • Epigenetics
  • Developmental Biology

Background:

  • Cryptorchidism in boys is linked to impaired mini-puberty and Ad spermatogonia differentiation, increasing infertility risk.
  • Altered gene expression of histone methyltransferases is observed in cryptorchid boys with high infertility risk compared to those with low risk.

Purpose of the Study:

  • To investigate the role of epigenetic mechanisms, specifically histone modifications, in male infertility associated with cryptorchidism.
  • To explore the impact of gonadotropin-releasing hormone agonist (GnRHa) treatment on histone expression and spermatogonial differentiation.

Main Methods:

  • Analysis of gene expression patterns of histone methyltransferases and deacetylases in cryptorchid boys.
  • Assessment of histone modifications and chromatin remodeling.
  • Evaluation of Ad spermatogonia differentiation following GnRHa treatment.

Main Results:

  • High infertility risk cryptorchid boys exhibit hypogonadotropic hypogonadism and altered histone marks (diminished histone deacetylases, increased HDAC8 decrotonylase).
  • GnRHa treatment normalized histone methyltransferase, chromatin remodeling, and histone deacetylase gene expression.
  • Histone modifications induced by treatment facilitated Ad spermatogonia differentiation, suggesting a pathway to fertility.

Conclusions:

  • Epigenetic mechanisms, including histone modifications, are crucial for understanding male infertility in cryptorchidism.
  • These epigenetic alterations may play a role in the potential transgenerational transmission of infertility.