Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13:37.
Article PubMed Central PubMed Google Scholar
Zorrilla M, Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013;1:247–60.
Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15:369–84.
Article CAS PubMed Google Scholar
De Braekeleer M, Nguyen MH, Morel F, Perrin A. Genetic aspects of monomorphic teratozoospermia: a review. J Assist Reprod Genet. 2015;32:615–23.
Article PubMed Central PubMed Google Scholar
Alberts B, Johnson A, Lewis J, Raff M, Roberts K, Walter P. Sperm. In: Molecular biology of the cell. 4th ed. New York: Garland Science; 2002.
Zhao W, Li Z, Ping P, Wang G, Yuan X, Sun F. Outer dense fibers stabilize the axoneme to maintain sperm motility. J Cell Mol Med. 2018;22:1755–68.
Article CAS PubMed Google Scholar
Castillo J, de la Iglesia A, Leiva M, Jodar M, Oliva R. Proteomics of human spermatozoa. Hum Reprod. 2023;38:2312–20.
Article CAS PubMed Google Scholar
Goyal R, Kotru M, Gogia A, Sharma S. Qualitative defects with normal sperm counts in a patient attending infertility clinic. Indian J Pathol Microbiol. 2018;61:233.
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update. 2015;21:455–85.
Article CAS PubMed Google Scholar
Baker MA, Naumovski N, Hetherington L, Weinberg A, Velkov T, Aitken RJ. Head and flagella subcompartmental proteomic analysis of human spermatozoa. Proteomics. 2013;13:61–74.
Article CAS PubMed Google Scholar
Beurois J, Cazin C, Kherraf Z-E, Martinez G, Celse T, Touré A, Arnoult C, Ray PF, Coutton C. Genetics of teratozoospermia: back to the head. Best Pract Res Clin Endocrinol Metab. 2020;34:101473.
Article CAS PubMed Google Scholar
Faja F, Pallotti F, Cargnelutti F, Senofonte G, Carlini T, Lenzi A, Lombardo F, Paoli D. Molecular analysis of DPY19L2, PICK1 and SPATA16 in Italian unrelated globozoospermic men. Life. 2021;11:641.
Article CAS PubMed Central PubMed Google Scholar
Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, Ravanat J-L, Metzler-Guillemain C, Lee HC, Fissore R, Hennebicq S, Ray PF, et al. Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development. Mol Hum Reprod. 2015;21:169–85.
Article CAS PubMed Google Scholar
Pierre V, Martinez G, Coutton C, Delaroche J, Yassine S, Novella C, Pernet-Gallay K, Hennebicq S, Ray PF, Arnoult C. Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus. Dev Camb Engl. 2012;139:2955–65.
Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011;88:351–61.
Article CAS PubMed Central PubMed Google Scholar
Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, et al. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Hum Reprod. 2012;27:2549–58.
Article CAS PubMed Google Scholar
Koscinski I, ElInati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray P, Kilani Z, Barratt CLR, Viville S. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011;88:344–50.
Article CAS PubMed Central PubMed Google Scholar
Zhu F, Gong F, Lin G, Lu G. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Mol Hum Reprod. 2013;19:395–404.
Article CAS PubMed Google Scholar
Li Y, Wu R, Zhu X, Liu W, Ye Y, Lu Z, Li N. Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report. Mol Cytogenet. 2020;13:24.
Article CAS PubMed Central PubMed Google Scholar
Ounis L, Zoghmar A, Coutton C, Rouabah L, Hachemi M, Martinez D, Martinez G, Bellil I, Khelifi D, Arnoult C, Fauré J, Benbouhedja S, et al. Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. Asian J Androl. 2015;17:68.
Article CAS PubMed Google Scholar
Modarres P, Tanhaei S, Tavalaee M, Ghaedi K, Deemeh MR, Nasr-Esfahani MH. Assessment of DPY19L2 deletion in familial and non-familial individuals with globozoospermia and DPY19L2 genotyping. Int J Fertil Steril. 2016;10:196–207.
CAS PubMed Central PubMed Google Scholar
Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D. A homozygous deletion of the DPY19L2 gene is a cause of globozoospermia in men from the Republic of Macedonia. Balk J Med Genet. 2013;16:73–6.
ElInati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012;21:3695–702.
Article CAS PubMed Google Scholar
Ghédir H, Ibala-Romdhane S, Okutman O, Viot G, Saad A, Viville S. Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. Mol Hum Reprod. 2016;22:35–45.
Shang Y-L, Zhu F-X, Yan J, Chen L, Tang W-H, Xiao S, Mo W-K, Zhang Z-G, He X-J, Qiao J, Cao Y-X, Li W. Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. Asian J Androl. 2019;21:183.
Li Y, Wang Y, Wen Y, Zhang T, Wang X, Jiang C, Zheng R, Zhou F, Chen D, Yang Y, Shen Y. Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects. Hum Reprod. 2021;37:152–77.
Article CAS PubMed Google Scholar
Chianese C, Fino MG, Riera Escamilla A, López Rodrigo O, Vinci S, Guarducci E, Daguin F, Muratori M, Tamburrino L, Lo Giacco D, Ars E, Bassas L, et al. Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia. Andrology. 2015;3:203–12.
Article CAS PubMed Google Scholar
ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S. A new mutation identified in SPATA16 in two globozoospermic patients. J Assist Reprod Genet. 2016;33:815–20.
Article PubMed Central PubMed Google Scholar
Fujihara Y, Oji A, Larasati T, Kojima-Kita K, Ikawa M. Human globozoospermia-related gene Spata16 is required for sperm formation revealed by CRISPR/Cas9-mediated mouse models. Int J Mol Sci. 2017;18:2208.
Article PubMed Central PubMed Google Scholar
Dam AHDM, Koscinski I, Kremer JAM, Moutou C, Jaeger A-S, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, Van Bokhoven H, Viville S. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007;81:813–20.
Article CAS PubMed Central PubMed Google Scholar
Karaca N, Yilmaz R, Kanten GE, Kervancioglu E, Solakoglu S, Kervancioglu ME. First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16. Fertil Steril. 2014;102:103–7.
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