Anderson J, Farr S, Jamieson D, Warner L, Macaluso MJF (2009) Infertility services reported by men in the United States: National Survey Data. Fertil Steril 91:2466–2470. https://doi.org/10.1016/j.fertnstert.2008.03.022
Arshad M, Majzoub A, Esteves SJ (2020) Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature. Int Urol Nephrol 52:2015–2038. https://doi.org/10.1007/s11255-020-02529-4
Bellani MA, Romanienko PJ, Cairatti DA, Camerini-Otero RD (2005) SPO11 is required for sex-body formation, and Spo11 heterozygosity rescues the prophase arrest of Atm−/− spermatocytes. J Cell Sci 118:3233–3245. https://doi.org/10.1242/jcs.02466
Article CAS PubMed Google Scholar
Bolcun-Filas E, Handel MA (2018) Meiosis: the chromosomal foundation of reproduction. Biol Reprod 99:112–126. https://doi.org/10.1093/biolre/ioy021
Bupp JM, Martin AE, Stensrud ES, Jaspersen SL (2007) Telomere anchoring at the nuclear periphery requires the budding yeast Sad1-UNC-84 domain protein Mps3. J Cell Biol 179:845–854. https://doi.org/10.1083/jcb.200706040
Article CAS PubMed PubMed Central Google Scholar
Burke B (2018) LINC complexes as regulators of meiosis. Curr Opin Cell Biol 52:22–29. https://doi.org/10.1016/j.ceb.2018.01.005
Article CAS PubMed Google Scholar
Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76:51–74. https://doi.org/10.1146/annurev.biochem.76.050106.093909
Article CAS PubMed Google Scholar
Chen Y, Wang Y, Chen J, Zuo W, Fan Y, Huang S, Liu Y, Chen G, Li Q, Li J, Wu J, Bian Q, Huang C, Lei M (2021) The SUN1-SPDYA interaction plays an essential role in meiosis prophase I. Nat Commun 12:3176. https://doi.org/10.1038/s41467-021-23550-w
Article CAS PubMed PubMed Central Google Scholar
Ding X, Xu R, Yu J, Xu T, Zhuang Y, Han M (2007) SUN1 is required for telomere attachment to nuclear envelope and gametogenesis in mice. Dev Cell 12:863–872. https://doi.org/10.1016/j.devcel.2007.03.018
Article CAS PubMed Google Scholar
Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, Syed N, Mezey JG, Abi Khalil C, Malek JA, Al-Ansari A, Al Said S, Crystal RG (2018) Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med 20:1365–1373. https://doi.org/10.1038/gim.2018.10
Article CAS PubMed Google Scholar
Gershoni M, Hauser R, Barda S, Lehavi O, Arama E, Pietrokovski S, Kleiman SJ (2019) A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest. Hum Reprod 34:666–671. https://doi.org/10.1093/humrep/dez016
Article CAS PubMed Google Scholar
Gong C, Abbas T, Muhammad Z, Zhou J, Khan R, Ma H, Zhang H, Shi Q, Shi B (2022) A homozygous loss-of-function mutation in MSH5 abolishes MutSγ axial loading and causes meiotic arrest in NOA-affected individuals. Int J Mol Sci. https://doi.org/10.3390/ijms23126522
Article PubMed PubMed Central Google Scholar
Harper L, Golubovskaya I, Cande WZ (2004) A bouquet of chromosomes. J Cell Sci 117:4025–4032. https://doi.org/10.1242/jcs.01363
Article CAS PubMed Google Scholar
Hiraoka Y, Dernburg AF (2009) The SUN rises on meiotic chromosome dynamics. Dev Cell 17:598–605. https://doi.org/10.1016/j.devcel.2009.10.014
Article CAS PubMed Google Scholar
Horn HF, Kim DI, Wright GD, Wong ES, Stewart CL, Burke B, Roux KJ (2013) A mammalian KASH domain protein coupling meiotic chromosomes to the cytoskeleton. J Cell Biol 202:1023–1039. https://doi.org/10.1083/jcb.201304004
Article CAS PubMed PubMed Central Google Scholar
Jarvi K, Lo K, Fischer A, Grantmyre J, Zini A, Chow V, Mak VJ (2010) CUA guideline: the workup of azoospermic males. Can Urol Assoc J 4:163–167. https://doi.org/10.5489/cuaj.10050
Article PubMed PubMed Central Google Scholar
Kmonickova V, Frolikova M, Steger K, Komrskova K (2020) The role of the LINC complex in sperm development and function. Int J Mol Sci. https://doi.org/10.3390/ijms21239058
Article PubMed PubMed Central Google Scholar
Krausz C, Riera-Escamilla A (2018) Genetics of male infertility. Nat Rev Urol 15:369–384. https://doi.org/10.1038/s41585-018-0003-3
Article CAS PubMed Google Scholar
Lee YL, Burke B (2018) LINC complexes and nuclear positioning. Semin Cell Dev Biol 82:67–76. https://doi.org/10.1016/j.semcdb.2017.11.008
Article CAS PubMed Google Scholar
Link J, Jahn D, Alsheimer M (2015) Structural and functional adaptations of the mammalian nuclear envelope to meet the meiotic requirements. Nucleus 6:93–101. https://doi.org/10.1080/19491034.2015.1004941
Article PubMed PubMed Central Google Scholar
Long J, Huang C, Chen Y, Zhang Y, Shi S, Wu L, Liu Y, Liu C, Wu J, Lei M (2017) Telomeric TERB1-TRF1 interaction is crucial for male meiosis. Nat Struct Mol Biol 24:1073–1080. https://doi.org/10.1038/nsmb.3496
Article CAS PubMed PubMed Central Google Scholar
Majzoub A, Arafa M, Clemens H, Imperial J, Leisegang K, Khalafalla K, Agarwal A, Henkel R, Elbardisi H (2022) A systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities. Andrologia 54:e14303. https://doi.org/10.1111/and.14303
Article CAS PubMed Google Scholar
Mikolcevic P, Isoda M, Shibuya H, del Barco BI, Igea A, Suja JA, Shackleton S, Watanabe Y, Nebreda AR (2016) Essential role of the Cdk2 activator RingoA in meiotic telomere tethering to the nuclear envelope. Nat Commun 7:11084. https://doi.org/10.1038/ncomms11084
Article CAS PubMed PubMed Central Google Scholar
Morimoto A, Shibuya H, Zhu X, Kim J, Ishiguro K, Han M, Watanabe Y (2012) A conserved KASH domain protein associates with telomeres, SUN1, and dynactin during mammalian meiosis. J Cell Biol 198:165–172. https://doi.org/10.1083/jcb.201204085
Article CAS PubMed PubMed Central Google Scholar
Mühlemann O (2016) Spermatogenesis studies reveal a distinct nonsense-mediated mRNA decay (NMD) mechanism for mRNAs with long 3’UTRs. PLoS Genet 12:e1005979. https://doi.org/10.1371/journal.pgen.1005979
Article CAS PubMed PubMed Central Google Scholar
Parvanov ED, Petkov PM, Paigen K (2010) Prdm9 controls activation of mammalian recombination hotspots. Science 327:835. https://doi.org/10.1126/science.1181495
Article CAS PubMed Google Scholar
Peters A, Plug A, van Vugt M, de Boer PJC (1997) A drying-down technique for the spreading of mammalian meiocytes from the male and female germline. Chromosome Res 5:66–68. https://doi.org/10.1023/a:1018445520117
Article CAS PubMed Google Scholar
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, Nagirnaja L, Conrad DF, Carrell DT, Aston KI (2021) Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Hum Genet 140:217–227. https://doi.org/10.1007/s00439-020-02236-1
Article CAS PubMed Google Scholar
Scherthan H (2001) A bouquet makes ends meet. Nat Rev Mol Cell Biol 2:621–627. https://doi.org/10.1038/35085086
Article CAS PubMed Google Scholar
Scherthan H (2007) Telomere attachment and clustering during meiosis. Cell Mol Life Sci 64:117–124. https://doi.org/10.1007/s00018-006-6463-2
Article CAS PubMed Google Scholar
Scherthan H, Weich S, Schwegler H, Heyting C, Härle M, Cremer T (1996) Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing. J Cell Biol 134:1109–1125. https://doi.org/10.1083/jcb.134.5.1109
Article CAS PubMed Google Scholar
Schober H, Ferreira H, Kalck V, Gehlen LR, Gasser SM (2009) Yeast telomerase and the SUN domain protein Mps3 anchor telomeres and repress subtelomeric recombination. Genes Dev 23:928–938. https://doi.org/10.1101/gad.1787509
Article CAS PubMed PubMed Central Google Scholar
Shibuya H, Hernandez-Hernandez A, Morimoto A, Negishi L, Hoog C, Watanabe Y (2015) MAJIN links telomeric DNA to the nuclear membrane by exchanging telomere cap. Cell 163:1252–1266. https://doi.org/10.1016/j.cell.2015.10.030
Article CAS PubMed Google Scholar
Starr DA, Fridolfsson HN (2010) Interactions between nuclei and the cytoskeleton are mediated by SUN-KASH nuclear-envelope bridges. Annu Rev Cell Dev Biol 26:421–444. https://doi.org/10.1146/annurev-cellbio-100109-104037
Article CAS PubMed PubMed Central Google Scholar
Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q, Wang G, Lv M, Xu Y, He X, Cao Y, Liu MJ (2022) Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and pr
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