Baseline expression profile of meiotic-specific genes in healthy fertile males.

OBJECTIVE: To establish the quantitative gene-expression profile of nine meiotic genes involved in synapsis and chromosome cohesion (SYCP1, SPO11, MSH4, MSH5, MLH1, MLH3, PMS2, STAG3, and REC8) in healthy fertile males.
DESIGN: Prospective study.
SETTING: Research university laboratory and clinical andrology service. PATIENT(S): Twenty healthy males of proven fertility underwent a vasectomy procedure and four infertile patients with Sertoli cell-only syndrome (SCOS). INTERVENTION(S): Analysis of testicular biopsies from 20 fertile males and four SCOS patients. MAIN OUTCOME MEASURE(S): Quantitative gene expression by real-time polymerase chain reaction in testicular biopsies. RESULT(S): Four of the nine genes under study (PMS2, MLH3, MLH1, and REC8) are expressed in both fertile males and SCOS patients. The remaining five genes are only (SYCP1, SPO11, MSH4, and MSH5) or mainly (STAG3) expressed in fertile males, and thus they could be considered meiotic-specific genes. All genes analyzed are expressed at similar levels among fertile individuals CONCLUSION(S): Gene expression levels reported in this study could be considered the gene expression profile of fertile population, and could be used to compare with the expression pattern of infertile patients. Expression of meiotic-specific genes could be used as a clinical diagnosis tool to ascertain the origin of some cases of idiopathic male infertility and sterility.