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Mol. Hum. Reprod. Advance Access published online on September 11, 2007
Molecular Human Reproduction, doi:10.1093/molehr/gam065
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Polymorphism of the GRTH/DDX25 gene in normal and infertile Japanese men: a missense mutation associated with loss of GRTH phosphorylation

Chon-Hwa Tsai-Morris1, Eitetsu Koh2, Yi Sheng1, Yuji Maeda1, Ravi Gutti1, Mikio Namiki2 and Maria L. Dufau1,*

1Section on Molecular Endocrinology, Endocrinology and Reproduction Research Branch 2National Institute of Child Health and Human Development, National Institute of Health, Bethesda MD 20892; Department of Urology, Kanazawa University School of Medicine, Ishikawa, Japan

* Corresponding author.

The gonadotropin-regulated testicular RNA helicase (GRTH/Ddx25) is present in Leydig and germ cells of rodents, and is essential for fertility in mice. This study evaluated the incidence of GRTH/DDX25 gene mutations in a group of infertile patients with non-obstructive azoospermia (NOA), 85% with a preponderance of Sertoli cells in the seminiferous tubule and 15% with spermatogenic arrest, and compared them to a group of fertile subjects. Exonic sequences in the GRTH gene were screened using denaturing high-performance liquid chromatography of the genomic DNA from 143 NOA and 100 fertile Japanese men. A unique heterozygous missense mutation Arg242His in exon 8 was identified in 5.8 % of Sertoli cell-only patients and in 1% of normal subjects. Although the mutant protein was efficiently expressed in COS-1 cells, only the 56 kDa nuclear/cytoplasmic non-phosphorylated species was present while the 61 kDa cytosolic phosporylated species was absent. In addition, a silent mutation was identified in exon 11 in NOA subjects. The Arg242His missense mutation of the GRTH/DDX25 gene associated with expression of a protein with reduced basicity, and the absence of the phospho-GRTH species, could be of relevance to some of the functional aspects of the protein that impact on germ cell development and/or function.

Key Words: GRTH/DDX25 mutation/missense mutation/single nucleotide polymorphism/azoospermia/infertility


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