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Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with

Toshinobu Miyamoto1, Eitetsu Koh, Naoko Sakugawa

  • 1Department of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan. toshim@asahikawa-med.ac.jp

Journal of Assisted Reproduction and Genetics
|October 23, 2008
PubMed
Abstract

Insights

Genetic defects in PRDM9 may be linked to azoospermia (infertility). This study found higher frequencies of certain PRDM9 gene variations in Japanese men with meiotic arrest, suggesting a potential association.

Area of Science:

  • Human genetics
  • Reproductive biology
  • Molecular genetics

Background:

  • Azoospermia, a cause of male infertility, can result from meiotic arrest during sperm production.
  • Genetic factors are implicated in various forms of infertility, including azoospermia.

Purpose of the Study:

  • To investigate potential associations between genetic defects in PRDM9, CDK2, and PSMC3IP genes and azoospermia in Japanese patients.
  • To analyze mutations in these genes in individuals experiencing meiotic arrest leading to azoospermia.

Main Methods:

  • Conducted mutational screening of the coding regions of PRDM9, CDK2, and PSMC3IP genes using direct sequencing.
  • Analyzed genomic DNA from 18 Japanese patients diagnosed with azoospermia due to meiotic arrest.
  • Performed statistical analysis of detected coding single nucleotide polymorphisms (cSNPs) comparing patients and healthy male controls.

Main Results:

  • Identified one cSNP in CDK2 and PSMC3IP, with no significant differences in genotype or allele frequencies between patient and control groups.
  • Detected three novel cSNPs in the PRDM9 gene.
  • Observed significantly higher genotype and allele frequencies of heterozygotes for PRDM9 SNPs (SNP2 and SNP3) in the azoospermia patient group compared to controls.

Conclusions:

  • A potential association between variations in the PRDM9 gene and azoospermia caused by meiotic arrest has been identified.
  • Further research is warranted to elucidate the specific role of PRDM9 in male meiosis and infertility.

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