Related Experiment Video
Updated: Mar 20, 2026
08:21
Isolation of Murine Spermatogenic Cells using a Violet-Excited Cell-Permeable DNA Binding Dye
Published on: January 14, 2021
6.6K
New Sequence Variations in Spermatogenesis Candidates Genes
María Noelia Poli1,2,3, Pedro Fernández Iriarte1,2, Celia Iudica1,3
1Laboratorio de Genética, Departamento de Biología FCEyN, Universidad Nacional de Mar del Plata. Argentina.
JBRA Assisted Reproduction
|May 21, 2016
Summary
New mutations in spermatogenesis genes were identified in men with azoospermia or cryptozoospermia. These genetic variants may contribute to male infertility by affecting protein function.
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Biology
Background:
- Azoospermia and cryptozoospermia are major causes of male infertility.
- Identifying genetic factors is crucial for understanding spermatogenesis defects.
Purpose of the Study:
- To determine the frequency and types of mutations in key spermatogenesis genes.
- To investigate the role of these mutations in azoospermia/cryptozoospermia.
Main Methods:
- Sequencing of coding regions of DBY, RBMY, DAZ, CDY, BPY2, and DAZL (exon 3) in 25 patients.
- Analysis of sequences using ProSeq, DnaSP v5, Blastn, and tblastx.
Main Results:
- 16 out of 25 patients exhibited variants (transversions, transitions, deletions, insertions) in DAZ, DAZL, CDY, and RBMY genes.
- Mutated sequences showed high homology to specific proteins, with exceptions for DAZL (73%) and DAZ (94%).
Conclusions:
- Novel variants were discovered in genes critical for spermatogenesis.
- These previously undescribed mutations may impair protein function and contribute to infertility.
Related Concept Videos
01:41Spermatogenesis
124.5K
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...
124.5K
01:22Spermatogenesis
10.6K
Spermatogenesis is a complex process that involves the development of sperm cells from undifferentiated stem cells in the seminiferous tubules of the testes. The process is essential for the production of mature and functional sperm cells that are capable of fertilizing an egg.
The process of spermatogenesis can be divided into mitosis, meiosis, and spermiogenesis. During mitosis, the spermatogonia or stem cells divide to produce two identical daughter cells, type A and B spermatogonia. Type-A...
The process of spermatogenesis can be divided into mitosis, meiosis, and spermiogenesis. During mitosis, the spermatogonia or stem cells divide to produce two identical daughter cells, type A and B spermatogonia. Type-A...
10.6K
01:25Genetic Variation
1.5K
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,...
Genes exist in different versions called alleles,...
1.5K
02:19The Y Chromosome Determines Maleness
8.7K
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....
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....
8.7K
02:26Comparing Copy Number Variations and SNPs
19.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.2K
02:51Multi-species Conserved Sequences
4.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.9K