Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome
Byunghyuk Kim A , Wonkyung Lee A , Kunsoo Rhee A C , Soo Woong Kim B and Jae-Seung Paick B C
+ Author Affiliations
- Author Affiliations
A Department of Biological Sciences, Seoul National University, 599 Gwanak-ro, Gwanak-gu, Seoul 151-747, Korea.
B Department of Urology, College of Medicine, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea.
C Corresponding authors. Emails: rheek@snu.ac.kr; jspaick@snu.ac.kr
Reproduction, Fertility and Development 26(2) 307-315 https://doi.org/10.1071/RD12290
Submitted: 6 September 2012 Accepted: 10 January 2013 Published: 20 February 2013
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.
Additional keywords: male infertility, microdeletion, testis.
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