Search for mutations involved in human globozoospermia*

Pirrello, O.; Machev, Nadejda; Schimdt, Françoise; Terriou, Philippe; Ménézo, Yves; Viville, Stéphane

doi:10.1093/humrep/deh799

Cited by 33 publications

(22 citation statements)

References 27 publications

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“…Although these pathophysiologies of sperm motility and morphology are heterogenous, the genetic diagnosis is based on the clinical and laboratory examination, and the appropriate genetic tests (see the section 3.13). In a recent study, no mutation was found among six patients with globozoospermia [30]. Counseling is of paramount importance to inform the couples about the risk of transmitting these disorders to their offspring.…”

Section: Kartagener Syndrome and Other Monomorphic Anomalies Of Spermmentioning

confidence: 98%

“…Thus, monomorphic anomalies of spermatozoa represent a defined entity with distinct genetic background and variable characteristics as, for example, globozoospermia [13,24] (see the section 3.13). Globozoospermia is found in less than 0.1% of infertile male partners [30]. Although these pathophysiologies of sperm motility and morphology are heterogenous, the genetic diagnosis is based on the clinical and laboratory examination, and the appropriate genetic tests (see the section 3.13).…”

Section: Kartagener Syndrome and Other Monomorphic Anomalies Of Spermmentioning

confidence: 99%

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Genetic and epigenetic risks of intracytoplasmic sperm injection method

et al. 2006

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Pregnancies achieved by assisted reproduction technologies, particularly by intracytoplasmic sperm injection (ICSI) procedures, are susceptible to genetic risks inherent to the male population treated with ICSI and additional risks inherent to this innovative procedure. The documented, as well as the theoretical, risks are discussed in the present review study. These risks mainly represent that consequences of the genetic abnormalities underlying male subfertility (or infertility) and might become stimulators for the development of novel approaches and applications in the treatment of infertility. In addition, risks with a polygenic background appearing at birth as congenital anomalies and other theoretical or stochastic risks are discussed. Recent data suggest that assisted reproductive technology might also affect epigenetic characteristics of the male gamete, the female gamete, or might have an impact on early embryogenesis. It might be also associated with an increased risk for genomic imprinting abnormalities.

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Section: Kartagener Syndrome and Other Monomorphic Anomalies Of Spermmentioning

confidence: 98%

Section: Kartagener Syndrome and Other Monomorphic Anomalies Of Spermmentioning

confidence: 99%

Genetic and epigenetic risks of intracytoplasmic sperm injection method

et al. 2006

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“…No mutations have been found in globozoospermic patients in genes such as Hrb, GOPC and Csnk2a2 that are known to be associated with globozoospermic-phenotypes in mutant mice (Pirrello et al, 2005;Christensen et al, 2006). GOPC 2/2 mice that share most of the characteristics of the human phenotype have confirmed the main role played by the peri-nuclear matrix for acrosome formation and oocyte activation (Yao et al, 2002;Ito et al, 2004Ito et al, , 2009Ito et al, , 2010).…”

Section: Discussionmentioning

confidence: 98%

Acrosomal biogenesis in human globozoospermia: immunocytochemical, ultrastructural and proteomic studies

2012

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background: Acrosome biogenesis is a key event in sperm differentiation that depends on the proper interaction between the Golgi complex and the nuclear envelope of early spermatids. We studied the development, structure and biochemical characteristics of human acrosomes in germ cells and spermatozoa from testicular biopsies and semen samples of fertile men and patients with acrosomeless spermatozoa (globozoospermia). A set of proteins collectively known as the perinuclear theca (PT), which has been related to acrosomal development in many mammalian species, were also investigated. methods:We evaluated spermatozoa from five males with globozoospermia and six fertile men, and immature germ cells from testicular biopsies of one globozoospermic patient and three men with obstructive azoospermia. Samples were assessed by transmission electron microscopy, immunofluorescence microscopy, ultrastructural immunocytochemistry and proteomic analysis by western blot.results: In normal spermiogenesis, the development of the acrosome depends on the correct formation of Golgi-derived proacrosomal vesicles and simultaneous modifications in the nuclear envelope. PT proteins are consistently found in proacrosomic vesicles, localize underneath the acrosome and expand over the nuclear surface along acrosome biogenesis. In fertile men, the PT is composed of six proteins, similar to those previously described for other mammals (16, 22, 29, 34, 50 and 68 kDa). In globozoospermia, abnormal proacrosomal vesicles and paranuclear multivesicular and multilamellar structures were observed that resulted in acrosomes insufficiently developed or detached from the nuclear envelope. PT proteins, dissociated from the acrosomes, were ectopically localized in the cytoplasm. Proteomic analysis showed a significant decrease in all six PT proteins.conclusions: The alterations observed during early acrosome biogenesis in globozoospermia are due to anomalous development of Golgi-derived proacrosomic vesicles, failure of PT proteins to properly associate with the nuclear surface and significant deficiencies in specific PT components that are necessary for proper acrosome formation, implantation and expansion over the spermatid nucleus.

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“…Plusieurs équipes ont séquencé, chez quelques patients atteints, différents gènes comme Csnk2a2 et Csnk2b [15], Hrb, GOPC et Csnk2a2 [16]. Si initialement aucune mutation n'a été retrouvée, mis à part quelques polymorphismes génétiques, une étude récente, analysant les gènes GOPC, HRB, CSNK2a2 et PICK1, a caractérisé une mutation pour ce dernier gène [17].…”

Section: Abstract Globozoocephalia · Genetics · Globozoospermiaunclassified

Avons-nous percé le mystère de la globozoospermie ?

Ferfouri

Merdassi²,

Vialard

2011

Basic Clin. Androl.

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Résumé Si la première description de la globozoocéphalie date de 1971, il aura fallu plus de 35 ans pour identifier la première cause génétique (une altération du gène SPATA16), et cela malgré la création de nombreux modèles murins et la certitude d’une cause purement génétique à ce syndrome par l’observation de fratrie de patients atteints. Malgré l’identification récente de nouveaux gènes comme PICK1 et DPY19L2, la globozoocéphalie reste toujours un mystère. En effet, ce syndrome est probablement très polymorphe, comme le suggèrent les observations en microscopie électronique, et il est associé à un très mauvais taux de succès en assistance médicale à la procréation (AMP). Les prochaines études devront donc s’attacher à comprendre les mécanismes à l’origine de cette globozoocéphalie et à identifier des traitements pouvant contourner les déficits spermatiques majeurs associés à ce syndrome.

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Search for mutations involved in human globozoospermia*

Abstract: No mutation was identified among these six patients. Further work is needed, with a larger patient data set, to identify putative genes involved in this form of male infertility.

Cited by 33 publications

References 27 publications

Genetic and epigenetic risks of intracytoplasmic sperm injection method

Genetic and epigenetic risks of intracytoplasmic sperm injection method

Acrosomal biogenesis in human globozoospermia: immunocytochemical, ultrastructural and proteomic studies

Avons-nous percé le mystère de la globozoospermie ?

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