Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Copy number variation associated with meiotic arrest in idiopathic male infertility|
Van Den Bergen, J.
|Citation:||Fertility and Sterility, 2015; 103(1):214-219|
|Stefanie Eggers, Kathleen D. DeBoer, Jocelyn van den Bergen, Lavinia Gordon, M.Sc., Stefan J. White, Duangporn Jamsai, Robert I. McLachlan, Andrew H. Sinclair and Moira K. O'Bryan|
|Abstract:||OBJECTIVE: To assess the association between copy number variations (CNVs) and meiotic arrest and azoospermic men. DESIGN: Genetic association study. SETTING: University. PATIENT(S): Australian men: 19 with histologically confirmed meiotic arrest, 110 men with azoospermia in the absence of histologic data, and 97 fertile men (controls). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The identification of CNV by microarray and/or multiplex ligation-dependent probe amplification (MLPA), and the localization of unique CNV encoded proteins to the human testis. RESULT(S): Microarray identified two CNVs unique to meiosis arrest patients. One containing the MYRIP gene and a second containing LRRC4C and the long noncoding RNA LOC100507205. All three genes are transcribed in the human testis, and MYRIP and LRRC4C localize to meiotic cells. The reverse genetic screen for CNVs in meiosis genes identified in mouse models further identified CNVs including HSPA2 as being associated with azoospermia. CONCLUSION(S): These data raise the possibility that, while relatively rare, CNVs may contribute to human male infertility and that CNV screening should be incorporated into long-term plans for genome profiling as a diagnostic tool.|
|Keywords:||Azoospermia; copy number variation; genetics; human|
|Rights:||© 2015 by American Society for Reproductive Medicine|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.