Integrative DNA methylation and gene expression analysis identifies discoidin domain receptor 1 association with idiopathic nonobstructive azoospermia

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Integrative DNA methylation and gene expression analysis identifies discoidin domain receptor 1 association with idiopathic nonobstructive azoospermia Ranjith Ramasamy, M.D., Alex Ridgeway, M.S., Larry I. Lipshultz, M.D., Dolores J. Lamb, Ph.D. Fertility and Sterility Volume 102, Issue 4, Pages 968-973.e3 (October 2014) DOI: 10.1016/j.fertnstert.2014.06.028 Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Relative expression of DDR1 mRNA in men with nonobstructive azoospermia compared to fertile controls. ∗P<.05. Fertility and Sterility 2014 102, 968-973.e3DOI: (10.1016/j.fertnstert.2014.06.028) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Map of the 338-bp CpG island around exon 1 in DDR1. Vertical bars indicate CpG sites (A). Clonal bisulfite sequencing was done to assess methylation status of CpG sites in the amplicon (B) and site 2 (cg13329862) in men with NOA and fertile controls (C). Ten clones were sequenced from each patient. The percentage of methylation in each CCG site is denoted by pie charts, as indicated. Fertility and Sterility 2014 102, 968-973.e3DOI: (10.1016/j.fertnstert.2014.06.028) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Immunohistochemistry demonstrating DDR1 protein in germ cells and peritubular connective tissue from testis biopsy from man with NOA and hypospermatogenesis at low power 100× (A) and high power 400× (B) and decreased expression of DDR1 protein in man with Maturation arrest histology (D). Lack of DDR1 staining is demonstrated in negative controls (C and E). Fertility and Sterility 2014 102, 968-973.e3DOI: (10.1016/j.fertnstert.2014.06.028) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Workflow illustrating the project. Fertility and Sterility 2014 102, 968-973.e3DOI: (10.1016/j.fertnstert.2014.06.028) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions