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Association of a Single-Nucleotide Polymorphism of the Deleted-in-Azoospermia-Like Gene with Susceptibility to Spermatogenic Failure

Department of Early Childhood Education and Nursery (Y.-N.T.), Chia Nan University of Pharmacy and Science, Tainan 717; Departments of Urology (Y.-M.L., W.-C.T.), Medicine (S.-Y.T.), Pediatrics (S.-J.L.), and Obstetrics and Gynecology (P.-L.K.) and Institute of Molecular Medicine (Y.-H.L.), National Cheng Kung University College of Medicine, Tainan 704; and Taiwan United Birth Promoting Experts (C.-C.H.), Tainan 700, Taiwan

Address all correspondence and requests for reprints to: Pao-Lin Kuo, M.D., Division of Genetics, Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan 704. E-mail: paolink{at}mail.ncku.edu.tw.

Abstract

Single-strand conformation polymorphism analysis of exon-containing genomic DNA segments of the deleted-in-azoospermia-like (DAZL) gene was performed in 160 infertile Taiwanese men presenting with severe oligozoospermia and nonobstructive azoospermia. An AG transition at nucleotide 386 in exon 3 was identified. The mutation is located within the RNA-recognition motif (aa 32–117) domain of the DAZL protein and will lead to Thr54Ala change (T54A) of DAZL protein. Analysis of cDNA from testicular tissue of infertile carriers showed absence of expression for the T54A allele, implying that the allele carrying T54A polymorphism is hardly, if ever, expressed. The frequencies of T54A allele in patients and the control group were 7.39% and 0.86%, respectively (P = 0.0003). The phenotypes varied significantly in cases with heterozygous T54A polymorphism, ranging from hypospermatogenesis and maturation arrest to Sertoli cell-only syndrome. A combination of DAZ gene deletion and T54A polymorphism did not worsen the phenotype. Our findings provide strong evidence for the role of the autosomal DAZL gene in human spermatogenesis.

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