Related Experiment Video
Updated: May 2, 2026
06:07
Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
2.5K
Polymorphism in DNMT1 may modify the susceptibility to oligospermia
Pan Cheng1, Hui Chen1, Ruo-Peng Zhang2
1Department of Genetics, College of Agriculture and Biology, Dali University, Dali 671003, China; College of Basic Medicine, Dali University, Dali 671000, China.
Reproductive Biomedicine Online
|March 18, 2014
Summary
Single-nucleotide polymorphisms (SNPs) in DNMT1 may be linked to oligospermia, a form of male infertility. Specific variations in DNMT1 were more common in men with low sperm counts, suggesting a potential role in male reproductive health.
Area of Science:
- Genetics
- Reproductive Biology
- Epigenetics
Background:
- DNA methylation is crucial for spermatogenesis.
- DNMT1, a key methyltransferase, is essential for normal sperm development.
- Spermatogenesis impairment can lead to male infertility.
Purpose of the Study:
- To investigate the association between DNMT1 gene polymorphisms and spermatogenesis impairment in a Chinese population.
- To explore the relationship between specific SNPs (rs16999593, rs2228612, rs2228611) in DNMT1 and male infertility.
Main Methods:
- Case-control study involving 342 infertile patients (azoospermia or oligospermia) and 232 fertile controls.
- Genotyping of three single-nucleotide polymorphisms (SNPs) in the DNMT1 gene.
- Analysis of allele and genotype frequencies between patient and control groups, with subgroup analysis for oligospermia.
Main Results:
- No significant differences in overall allele or genotype frequencies of the three DNMT1 SNPs between total infertile patients and controls.
- Significant differences observed in allele and genotype frequencies when stratifying patients.
- Higher frequencies of DNMT1 SNP rs16999593 allele A and genotype AA, and SNP rs2228611 genotype AA in the oligospermia subgroup compared to controls.
Conclusions:
- DNMT1 gene polymorphism may be associated with oligospermia, a condition characterized by low sperm count.
- These specific DNMT1 polymorphisms might influence an individual's susceptibility to developing oligospermia.
- Further research is warranted to elucidate the functional mechanisms linking DNMT1 variations to male infertility.
Related Concept Videos
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
81
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
01:29Nondisjunction
68.0K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
68.0K
01:21Nondisjunction
4.5K
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...
4.5K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
159
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
159
01:27Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
94
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
94
02:23Abnormal Proliferation
4.0K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.0K