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Related Concept Videos

Spermatogenesis01:41

Spermatogenesis

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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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Inheritance of Chromatin Structures03:17

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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Chromatin Modification in iPS Cells01:32

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Chromatin modification alters gene expression; therefore, scientists can add histone-modifying enzymes, histone variants, and chromatin remodeling complexes to somatic cells to aid reprogramming into pluripotent stem (iPS) cells.
Compact chromatin makes reprogramming difficult. Enzymes, such as histone demethylases and acetyltransferases, are often added during reprogramming to loosen the chromatin, making the DNA more accessible to transcription factors. Molecules that inhibit histone...
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Methods of Nuclear Reprogramming01:24

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Nuclear reprogramming is a process of transforming one cell type into an unrelated cell type by epigenetic changes that alter the cell’s original gene expression pattern. Such epigenetic changes force cells to express a different set of genes, which play a significant role in inducing transformation into other cell types. Nuclear reprogramming offers applications in reproductive cloning for livestock propagation and regenerative medicine — developing patient-specific cells for...
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Heterochromatin02:38

Heterochromatin

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The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at...
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Meiosis I01:49

Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Related Experiment Video

Updated: Jul 4, 2025

Isolation of Murine Spermatogenic Cells using a Violet-Excited Cell-Permeable DNA Binding Dye
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Human-specific epigenomic states in spermatogenesis.

Caiyun Liao1, Benjamin William Walters2, Marcello DiStasio3,4

  • 1Department of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA.

Computational and Structural Biotechnology Journal
|January 26, 2024
PubMed
Summary

This study identified 239 genes with unique human regulation patterns during sperm development. These genes offer new targets for understanding and treating male infertility and developing male contraception.

Keywords:
EvolutionExpressionFertilityGenomicsHistone modificationSpermatogenesis

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A Seminiferous Tubule Squash Technique for the Cytological Analysis of Spermatogenesis Using the Mouse Model
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A Seminiferous Tubule Squash Technique for the Cytological Analysis of Spermatogenesis Using the Mouse Model
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Area of Science:

  • Reproductive Biology
  • Genetics
  • Epigenetics

Background:

  • Infertility affects 1 in 6 people globally, with male factors contributing to half of cases, often due to sperm development issues.
  • Genetic factors are crucial for spermatogenic defects, but a comprehensive gene list for male fertility is missing.
  • Species-specific gene regulation in sperm development hinders identification of human-critical genes using traditional models.

Purpose of the Study:

  • To identify human-specific gene regulation patterns during spermatogenesis.
  • To discover novel candidate genes associated with male infertility.
  • To explore evolutionary and epigenomic data for reproductive gene screening.

Main Methods:

  • Analyzed post-translational histone modification and gene transcription data for 15,491 genes across four mammalian species (human, rhesus macaque, mouse, opossum).
  • Utilized H3K27me3 ChIP-seq, H3K4me3 ChIP-seq, and RNA-seq data to define epigenetic states at pachytene spermatocyte and round spermatid stages.
  • Compared epigenetic states across species to pinpoint human-specific gene regulation.

Main Results:

  • Identified 239 genes with unique activity, poised states, or dynamic regulation in human spermatogenic cells compared to other species.
  • Some identified genes are known reproductive factors, while many are novel candidates for infertility research.
  • Demonstrated the utility of cross-species epigenomic and evolutionary data for gene discovery.

Conclusions:

  • The study identified 239 human-specific genes involved in spermatogenesis, offering new insights into male fertility.
  • These novel genes represent potential targets for diagnosing and managing male infertility and for male contraception development.
  • Leveraging evolutionary and epigenomic data provides a powerful approach for screening reproductive genes.