Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome

Byunghyuk Kim, Wonkyung Lee, Kunsoo Rhee, Soo Woong Kim, Jae Seung Paick

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

Original languageEnglish
Pages (from-to)307-315
Number of pages9
JournalReproduction, Fertility and Development
Volume26
Issue number2
DOIs
StatePublished - 2014

Keywords

  • Male infertility
  • Microdeletion
  • Testis

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