Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization

Kuo Chung Lan*, Hung Jen Wang, Tzu Jou Wang, Hsin Jung Lin, Yung Chiao Chang, Hong Yo Kang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

6 Scopus citations

Abstract

Background: The precise contribution of each chromosome gene or gene family in achieving male fertility is still the subject of debate. Most studies have examined male populations with heterogeneous causes of infertility, and have therefore reached controversial or uncertain conclusions. This study uses Y-chromosome array-based comparative genomic hybridization (aCGH) to examine a population of males with a uniform sertoli cell-only syndrome (SCOS) infertility phenotype. Methods: Initial analysis of gene copy number variations in 8 SCOS patients, with determination of the log-ratio of probe signal intensity against a DNA reference, was performed using the Y-chromosome NimbleGen aCGH. To confirm the role of candidate genes, real-time quantitative RT-PCR was used to compare 19 patients who had SCOS non-obstructive azoospermia with 15 patients who had obstructive azoospermia but normal spermatogenesis. Results: Our initial aCGH experiments identified CDY1a and CDY1b double deletions in all 8 patients who had total germ cell depletion. However, 5 patients had DAZ1/2 and DAZ3/4 deletions, 1 patient had a DAZ2 and DAZ3/4 deletion, and 2 patients had no DAZ1/2 or DAZ3/4 deletions. Examination of testicular mRNA expression in another 19 patients with SCOS indicated all patients had no detectable levels of CDY1. Conclusions: Our findings indicate that CDY1 deletion in SCOS patients, and analysis of the expression of DAZ and CDY1 genes using aCGH and quantitative RT-PCR, may be useful to predict the presence of mature spermatozoa.

Original languageEnglish
Article number100524
Pages (from-to)100524
JournalBiomedical Journal
Volume46
Issue number2
DOIs
StatePublished - 04 2023

Bibliographical note

Copyright © 2022 Chang Gung University. Published by Elsevier B.V. All rights reserved.

Keywords

  • Array comparative genomic hybridization
  • Azoospermia
  • Genetic variations
  • Sertoli cell-only syndrome
  • Spermatogenesis
  • Humans
  • Male
  • Azoospermia/genetics
  • Genes, Y-Linked
  • Sertoli Cell-Only Syndrome/genetics
  • Comparative Genomic Hybridization
  • Gene Deletion
  • DNA Copy Number Variations/genetics

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