Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility.
Proper regulation of meiosis is essential for normal spermatogenesis and abnormalities may be associated with infertility, as shown in both animal knockout studies and studies identifying anomalies in key proteins, such as SCP3 and MLH1. Disruptions of meiosis are associated with azoospermia or severe oligozoospermia, and may increase the incidence of sperm aneuploidy in some men. Based on its function and animal studies, REC8, a key component of the meiotic cohesion complex, has been identified as a candidate male infertility gene. In this study, we have evaluated sequence variation in the REC8 gene of severely infertile men of European descent with azoospermia or severe oligozoospermia compared to a fertile control population. The direct sequencing of these populations revealed nine polymorphic sites, four within intron/exon boarders, four within coding exons and one in the three prime untranslated region. These sites did not show significantly different allelic frequencies in the study populations compared to fertile controls. This indicates that polymorphisms of the Rec 8 gene are not a common cause of infertility in this population. Additional studies are warranted in patients with defined meiotic disruption.
Griffin
Jeanine
J
Andrology and IVF Laboratories, Division of Urology, Department of Surgery, School of Medicine, University of Utah, Salt Lake City, Utah 84108, USA.
Emery
Benjamin R
BR
Christensen
Greg L
GL
Carrell
Douglas T
DT
D020413:3' Untranslated Regions; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D008540:Meiosis / Q000235:genetics*; D009845:Oligospermia / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D011995:Recombination, Genetic; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics
D020413:3' Untranslated Regions; D018797:Cell Cycle Proteins; C507675:REC8 protein, human