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Related Concept Videos

Spermatogenesis01:41

Spermatogenesis

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 reproductive...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
X and Y Chromosomes02:32

X and Y Chromosomes

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.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

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
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Infertility in Males01:23

Infertility in Males

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...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

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Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility.

Human reproduction (Oxford, England)·1998
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Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development.

Journal of cell science·1998
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Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.

Proceedings of the National Academy of Sciences of the United States of America·1997
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A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome.

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Viable aneuploidy in the horse.

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Fertility investigations in the F1 hybrid and backcross progeny of cattle (Bos taurus) and yak (B. grunniens) in Mongolia.

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Related Experiment Video

Updated: Jul 17, 2026

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

Genetic contribution to male infertility

A C Chandley1

  • 1Department of Urology, Western General Hospital, Edinburgh, Scotland, UK.

Human Reproduction (Oxford, England)
|October 2, 1998
PubMed
Summary

Infertility affects 2-7% of couples trying to conceive. Chromosomal and gene disorders significantly impair sperm production, highlighting the genome

Area of Science:

  • Genetics
  • Reproductive Biology
  • Human Health

Background:

  • Infertility affects 2-7% of couples globally.
  • Spermatogenic impairment is a significant factor in male infertility.
  • Genetic and chromosomal abnormalities are implicated in failed conception.

Purpose of the Study:

  • To investigate the role of chromosomal and gene disorders in male infertility.
  • To understand the contribution of genomic integrity to germ cell development.
  • To identify specific genes involved in spermatogenic control.

Main Methods:

  • Screening of men attending infertility clinics.
  • Analysis of chromosomal abnormalities (numerical and structural).
  • Investigation of gene involvement in spermatogenesis.

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Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
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Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

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Mouse Round Spermatid Injection
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Mouse Round Spermatid Injection

Published on: January 26, 2024

Related Experiment Videos

Last Updated: Jul 17, 2026

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
08:48

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects

Published on: April 21, 2022

Mouse Round Spermatid Injection
08:41

Mouse Round Spermatid Injection

Published on: January 26, 2024

Main Results:

  • Chromosomal abnormalities are frequently found in men with impaired sperm production.
  • Germ cell breakdown is associated with numerical and structural chromosome abnormalities.
  • Genes on the Y chromosome and autosomes play a role in regulating sperm production.

Conclusions:

  • An orderly genome is essential for normal germ cell development and successful conception.
  • Chromosomal and gene disorders are significant contributors to male infertility.
  • Further research into specific genes is crucial for understanding and treating infertility.