Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell–only syndrome Moira K. O'Bryan,

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Presentation transcript:

Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell–only syndrome Moira K. O'Bryan, Ph.D., Alicia Grealy, B.Sc., Peter J. Stahl, M.D., Peter N. Schlegel, M.D., Robert I. McLachlan, M.D., Duangporn Jamsai, Ph.D. Fertility and Sterility Volume 98, Issue 4, Pages 827-835.e3 (October 2012) DOI: 10.1016/j.fertnstert.2012.06.013 Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions

Figure 1 ETV5 localization within the adult human testis and locations of all identified genetic variants. (A–D) ETV5 is localized to both Sertoli and germ cells. Images A and C represent DAPI (as a DNA marker) staining in the same fields as images B and D, respectively. Positive staining of ETV5 is shown by red signal. SC = Sertoli cell; SG = spermatogonia; EP = early pachytene spermatocyte; LP = late pachytene spermatocyte; R = round spermatid. (E) ETV5-positive staining was not observed when the primary antibody was omitted. Bars = 50 μm. (F) The human ETV5 gene comprises 13 exons (ENST00000306376 transcript) located on chromosome 13. ATG represents translational initiation codon, open bars represent untranslated regions, and filled bars represent protein-coding exons. Arrows and numbers above the arrows indicate the identified variants. *Previously reported SNPs. #SNPs selected for follow-up study. (G, H) Schematic representation of exon 11, intron 11, and exon 12. SLU7 and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) motifs are underlined. Bold letters represent the wild type (g) and variant (t) alleles. Fertility and Sterility 2012 98, 827-835.e3DOI: (10.1016/j.fertnstert.2012.06.013) Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Sequence alignment of the human ETV5 intron 11 sequence with other species. The +48845 G (arrow) of the ETV5 gene is a conserved sequence in human, horse, mouse, and zebrafish genomes. Fertility and Sterility 2012 98, 827-835.e3DOI: (10.1016/j.fertnstert.2012.06.013) Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions