Stefanie Eggers, Ph. D. , Kathleen D. DeBoer, Ph. D

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Copy number variation associated with meiotic arrest in idiopathic male infertility Stefanie Eggers, Ph.D., Kathleen D. DeBoer, Ph.D., Jocelyn van den Bergen, B.Sc., Lavinia Gordon, M.Sc., Stefan J. White, Ph.D., Duangporn Jamsai, Ph.D., Robert I. McLachlan, Ph.D., Andrew H. Sinclair, Ph.D., Moira K. O'Bryan, Ph.D. Fertility and Sterility Volume 103, Issue 1, Pages 214-219 (January 2015) DOI: 10.1016/j.fertnstert.2014.09.030 Copyright © 2015 American Society for Reproductive Medicine Terms and Conditions

Figure 1 A microarray screen of DNA from men with a meiosis arrest revealed the presence of two previously undescribed CNVs: (A) one on chromosome 3 containing the MYRIP gene, and one on chromosome 11 containing LRRC4C and the lncRNA LOC100507205. The numbers indicate approximate chromosomal locations (hg18) in Mb. (B) Each of the three genes contained within the two CNVs were expressed in adult human testis as determined by RT-PCR analysis. −/+ RT indicates the absence/presence of reverse transcriptase in cDNA conversion reactions. Water indicates a no-template control. Fertility and Sterility 2015 103, 214-219DOI: (10.1016/j.fertnstert.2014.09.030) Copyright © 2015 American Society for Reproductive Medicine Terms and Conditions

Figure 2 The localization of (A) MYRIP and (B) LRRC4C protein in normal adult testis as indicated by immunohistochemistry. Insets indicate the lack of staining in a no-primary-antibody control. Sp = spermatogonia, PC = pachytene spermatocytes, rtid = round spermatids, etid = elongate spermatids, SC = Sertoli cell. Red arrowhead indicates the presence of a structure likely to be the Golgi apparatus in pachytene spermatocytes (30). Scale bar = 50 μm. Fertility and Sterility 2015 103, 214-219DOI: (10.1016/j.fertnstert.2014.09.030) Copyright © 2015 American Society for Reproductive Medicine Terms and Conditions