Copy number variation associated with meiotic arrest in idiopathic male infertility

Stefanie Eggers, Kathleen Debra DeBoer, Jocelyn A van den Bergen, Lavinia Gordon, Stefan J White, Duangporn Jamsai, Robert I McLachlan, Andrew H Sinclair, Moira K O'Bryan

Research output: Contribution to journalArticleResearchpeer-review

22 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)214 - 219
Number of pages6
JournalFertility and Sterility
Volume103
Issue number1
DOIs
Publication statusPublished - 2015

Cite this

Eggers, S., DeBoer, K. D., van den Bergen, J. A., Gordon, L., White, S. J., Jamsai, D., ... O'Bryan, M. K. (2015). Copy number variation associated with meiotic arrest in idiopathic male infertility. Fertility and Sterility, 103(1), 214 - 219. https://doi.org/10.1016/j.fertnstert.2014.09.030
Eggers, Stefanie ; DeBoer, Kathleen Debra ; van den Bergen, Jocelyn A ; Gordon, Lavinia ; White, Stefan J ; Jamsai, Duangporn ; McLachlan, Robert I ; Sinclair, Andrew H ; O'Bryan, Moira K. / Copy number variation associated with meiotic arrest in idiopathic male infertility. In: Fertility and Sterility. 2015 ; Vol. 103, No. 1. pp. 214 - 219.
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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.",
author = "Stefanie Eggers and DeBoer, {Kathleen Debra} and {van den Bergen}, {Jocelyn A} and Lavinia Gordon and White, {Stefan J} and Duangporn Jamsai and McLachlan, {Robert I} and Sinclair, {Andrew H} and O'Bryan, {Moira K}",
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Eggers, S, DeBoer, KD, van den Bergen, JA, Gordon, L, White, SJ, Jamsai, D, McLachlan, RI, Sinclair, AH & O'Bryan, MK 2015, 'Copy number variation associated with meiotic arrest in idiopathic male infertility', Fertility and Sterility, vol. 103, no. 1, pp. 214 - 219. https://doi.org/10.1016/j.fertnstert.2014.09.030

Copy number variation associated with meiotic arrest in idiopathic male infertility. / Eggers, Stefanie; DeBoer, Kathleen Debra; van den Bergen, Jocelyn A; Gordon, Lavinia; White, Stefan J; Jamsai, Duangporn; McLachlan, Robert I; Sinclair, Andrew H; O'Bryan, Moira K.

In: Fertility and Sterility, Vol. 103, No. 1, 2015, p. 214 - 219.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - Copy number variation associated with meiotic arrest in idiopathic male infertility

AU - Eggers, Stefanie

AU - DeBoer, Kathleen Debra

AU - van den Bergen, Jocelyn A

AU - Gordon, Lavinia

AU - White, Stefan J

AU - Jamsai, Duangporn

AU - McLachlan, Robert I

AU - Sinclair, Andrew H

AU - O'Bryan, Moira K

PY - 2015

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N2 - 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.

AB - 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.

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JO - Fertility and Sterility

JF - Fertility and Sterility

SN - 0015-0282

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Eggers S, DeBoer KD, van den Bergen JA, Gordon L, White SJ, Jamsai D et al. Copy number variation associated with meiotic arrest in idiopathic male infertility. Fertility and Sterility. 2015;103(1):214 - 219. https://doi.org/10.1016/j.fertnstert.2014.09.030