Skip to main content
Erschienen in: Journal of Assisted Reproduction and Genetics 7/2014

01.07.2014 | Genetics

Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest

verfasst von: Homa Sarkardeh, Mehdi Totonchi, Ommolbanin Asadpour, Mohammad Ali Sadighi Gilani, Masoud Zamani Esteki, Navid Almadani, Parnaz Borjian Boroujeni, Hamid Gourabi

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 7/2014

Einloggen, um Zugang zu erhalten

Abstract

Purpose

The present research was undertaken to study probable genetic variations of MOV10L1 in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.

Methods

We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the MOV10L1 were further subjected to a haplotype analysis.

Results

We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (P < 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.

Conclusions

Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.
Literatur
2.
Zurück zum Zitat Matzuk MM, Lamb DJ. Genetic dissection of mammalian fertility pathways. Nat Cell Biol. 2002;4(Suppl):s41–9.PubMed Matzuk MM, Lamb DJ. Genetic dissection of mammalian fertility pathways. Nat Cell Biol. 2002;4(Suppl):s41–9.PubMed
4.
Zurück zum Zitat Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singap Med J. 2009;50:336–47. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singap Med J. 2009;50:336–47.
5.
Zurück zum Zitat Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001;27:422–6.PubMedCrossRef Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001;27:422–6.PubMedCrossRef
6.
Zurück zum Zitat Frost RJ, Hamra FK, Richardson JA, Qi X, Bassel-Duby, et al. MOV10L1 is necessary for protection of spermatocytes against retrotransposons by Piwi-interacting RNAs. Proc Natl Acad Sci U S A. 2010;107:11847–52.PubMedCentralPubMedCrossRef Frost RJ, Hamra FK, Richardson JA, Qi X, Bassel-Duby, et al. MOV10L1 is necessary for protection of spermatocytes against retrotransposons by Piwi-interacting RNAs. Proc Natl Acad Sci U S A. 2010;107:11847–52.PubMedCentralPubMedCrossRef
7.
Zurück zum Zitat Ueyama T, Kasahara H, Ishiwata T, Yamasaki N, Izumo S. Csm, a cardiac-specific isoform of the RNA helicase Mov10l1, is regulated by Nkx2.5 in embryonic heart. J Biol Chem. 2003;278:28750–7.PubMedCrossRef Ueyama T, Kasahara H, Ishiwata T, Yamasaki N, Izumo S. Csm, a cardiac-specific isoform of the RNA helicase Mov10l1, is regulated by Nkx2.5 in embryonic heart. J Biol Chem. 2003;278:28750–7.PubMedCrossRef
8.
Zurück zum Zitat Liu ZP, Nakagawa O, Nakagawa M, Yanagisawa H, Passier R, et al. CHAMP, a novel cardiac-specific helicase regulated by MEF2C. Dev Biol. 2001;234:497–509.PubMedCrossRef Liu ZP, Nakagawa O, Nakagawa M, Yanagisawa H, Passier R, et al. CHAMP, a novel cardiac-specific helicase regulated by MEF2C. Dev Biol. 2001;234:497–509.PubMedCrossRef
9.
Zurück zum Zitat Liu ZP, Olson EN. Suppression of proliferation and cardiomyocyte hypertrophy by CHAMP, a cardiac-specific RNA helicase. Proc Natl Acad Sci U S A. 2002;99:2043–8.PubMedCentralPubMedCrossRef Liu ZP, Olson EN. Suppression of proliferation and cardiomyocyte hypertrophy by CHAMP, a cardiac-specific RNA helicase. Proc Natl Acad Sci U S A. 2002;99:2043–8.PubMedCentralPubMedCrossRef
10.
Zurück zum Zitat Zheng K, Xiol J, Reuter M, Eckardt S, Leu NA, et al. Mouse MOV10L1 associates with Piwi proteins and is an essential component of the Piwi-interacting RNA (piRNA) pathway. Proc Natl Acad Sci U S A. 2010;107:11841–6.PubMedCentralPubMedCrossRef Zheng K, Xiol J, Reuter M, Eckardt S, Leu NA, et al. Mouse MOV10L1 associates with Piwi proteins and is an essential component of the Piwi-interacting RNA (piRNA) pathway. Proc Natl Acad Sci U S A. 2010;107:11841–6.PubMedCentralPubMedCrossRef
11.
Zurück zum Zitat Kuramochi-Miyagawa S, Watanabe T, Gotoh K, Totoki Y, Toyoda A, et al. DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testes. Genes Dev. 2008;22:908–17.PubMedCentralPubMedCrossRef Kuramochi-Miyagawa S, Watanabe T, Gotoh K, Totoki Y, Toyoda A, et al. DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testes. Genes Dev. 2008;22:908–17.PubMedCentralPubMedCrossRef
13.
Zurück zum Zitat Aravin AA, Hannon GJ. Small RNA silencing pathways in germ and stem cells. Cold Spring Harb Symp Quant Biol. 2008;73:283–90.PubMedCrossRef Aravin AA, Hannon GJ. Small RNA silencing pathways in germ and stem cells. Cold Spring Harb Symp Quant Biol. 2008;73:283–90.PubMedCrossRef
15.
Zurück zum Zitat Kim VN, Han J, Siomi MC. Biogenesis of small RNAs in animals. Nat Rev Mol Cell Biol. 2009;10:126–39.PubMedCrossRef Kim VN, Han J, Siomi MC. Biogenesis of small RNAs in animals. Nat Rev Mol Cell Biol. 2009;10:126–39.PubMedCrossRef
17.
18.
Zurück zum Zitat Kuramochi-Miyagawa S, Matsuda Y, Nakano T. Mili, a mammalian member of piwi family gene, is essential for spermatogenesis. Development. 2004;131:839–49.PubMedCrossRef Kuramochi-Miyagawa S, Matsuda Y, Nakano T. Mili, a mammalian member of piwi family gene, is essential for spermatogenesis. Development. 2004;131:839–49.PubMedCrossRef
19.
Zurück zum Zitat Aravin A, Gaidatzis D, Pfeffer S, Lagos-Quintana M, Landgraf P, et al. A novel class of small RNAs bind to MILI protein in mouse testes. Nature. 2006;442:203–7.PubMed Aravin A, Gaidatzis D, Pfeffer S, Lagos-Quintana M, Landgraf P, et al. A novel class of small RNAs bind to MILI protein in mouse testes. Nature. 2006;442:203–7.PubMed
20.
Zurück zum Zitat Kuramochi-Miyagawa S, Kimura T, Yomogida K, Kuroiwa A, Tadokoro Y, et al. Two mouse piwi-related genes: miwi and mili. Mech Dev. 2001;108:121–33.PubMedCrossRef Kuramochi-Miyagawa S, Kimura T, Yomogida K, Kuroiwa A, Tadokoro Y, et al. Two mouse piwi-related genes: miwi and mili. Mech Dev. 2001;108:121–33.PubMedCrossRef
21.
Zurück zum Zitat Singh M, Singh P, Juneja PK, Singh S, Kaur T. SNP-SNP interactions within APOE gene influence plasma lipids in postmenopausal osteoporosis. Rheumatol Int. 2011;31:421–3.PubMedCrossRef Singh M, Singh P, Juneja PK, Singh S, Kaur T. SNP-SNP interactions within APOE gene influence plasma lipids in postmenopausal osteoporosis. Rheumatol Int. 2011;31:421–3.PubMedCrossRef
Metadaten
Titel
Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest
verfasst von
Homa Sarkardeh
Mehdi Totonchi
Ommolbanin Asadpour
Mohammad Ali Sadighi Gilani
Masoud Zamani Esteki
Navid Almadani
Parnaz Borjian Boroujeni
Hamid Gourabi
Publikationsdatum
01.07.2014
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 7/2014
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-014-0240-1

Weitere Artikel der Ausgabe 7/2014

Journal of Assisted Reproduction and Genetics 7/2014 Zur Ausgabe

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.