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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Copy number variations in testicular maturation arrest.

A Halder1, P Kumar1, M Jain1

  • 1Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India.

Andrology
|February 21, 2017
PubMed
Summary

Copy number variations (CNVs) on sex chromosomes, including azoospermic factors (AZFs) and pseudoautosomal regions (PARs), are linked to testicular maturation arrest. Single nucleotide polymorphism (SNP) microarray is a sensitive tool for identifying these genetic causes of male infertility.

Keywords:
SNP microarrayazoospermic factorpseudoautosomal regionstesticular maturation arrest

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Area of Science:

  • Reproductive Biology
  • Human Genetics
  • Genomics

Background:

  • Testicular maturation arrest disrupts germ cell development, a key factor in male infertility.
  • Genetic abnormalities, particularly copy number variations (CNVs), are increasingly recognized as significant contributors to male infertility.

Purpose of the Study:

  • To investigate the role of CNVs in testicular maturation arrest using single nucleotide polymorphism (SNP) microarray.
  • To identify specific chromosomal regions and genes associated with this condition.

Main Methods:

  • Employed SNP microarray on 68 cases of testicular maturation arrest.
  • Utilized conventional cytogenetics, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR) for confirmation.
  • Analyzed copy number variations on sex chromosomes, including pseudoautosomal regions (PARs) and azoospermic factors (AZFs).

Main Results:

  • Detected CNVs in 55.9% of cases, predominantly on sex chromosomes.
  • Identified AZF deletions in 20.6% and AZFc gains in 8.8% of cases.
  • Found PAR 1, 2, and 3 CNVs in 7.3% and 19 cases respectively, with TSPY2 gene gain in 16 cases. Autosomal CNVs involving SPATA31A2-A5 were found in five cases.

Conclusions:

  • SNP microarray is a sensitive, specific, and cost-effective method for detecting genomic factors in testicular maturation arrest.
  • The study identified specific CNVs and genes, including AZF deletions and TSPY2 gene gain, contributing to the condition.
  • This technique has the potential to be a primary diagnostic tool for male infertility associated with testicular maturation arrest.