A new mutation identified in SPATA16 in two globozoospermic patients

ElInati, Elias; Fossard, Camille; Okutman, Özlem; Ghédir, Houda; Ibala-Romdhane, Samira; Ray, Pierre F.; Saâd, Ali; Hennebicq, Sylviane; Viville, Stéphane

doi:10.1007/s10815-016-0715-3

Cited by 42 publications

(44 citation statements)

References 14 publications

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“…In our previous studies, we have demonstrated firstly that the DPY19L2 alteration was the major cause of this syndrome in a large cohort of Tunisian globozoospermic patients (Ghedir et al, ). More recently, we have identified a new rare mutation in SPATA16 in two unrelated Tunisian patients (ElInati et al, ). In fact, it consists in a deletion of 22.6 Kb encompassing the exon 2.…”

Section: Discussionmentioning

confidence: 99%

“…Mutation screening for DPY19L2 and SPATA16 was then performed by PCR and Sanger sequencing of the exons and intronic flanking sequences of these genes. Primer sequences and PCR conditions are as described previously (ElInati et al, ; Ghedir et al, ) and listed in the supplementary data.…”

Section: Methodsmentioning

confidence: 99%

“…The deletion of the entire DPY19L2 gene was found in the majority of globozoospermic patients reported in the literature and thus considered as the main cause of total globozoospermia (Ghedir et al, ; Harbuz et al, ; Koscinski et al, ). While in SPATA16 gene, one familial mutation (c.848G>A/p.R283Q) (Dam, Koscinski, et al, ) and a new deletion of exon 2 (ElInati et al, ) were identified in only two patients.…”

Section: Introductionmentioning

confidence: 99%

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Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

et al. 2019

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The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2‐mutated patients (n = 6) and SPATA16‐mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls (p < 0.05), and a higher rate was observed in SPATA16‐mutated group compared to DPY19L2‐mutated group (p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls (p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2‐defects in classic globozoospermia.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

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“…176 Some obvious structural defects can be detected microscopically, whereas some defects in energy production, signalling transduction and metabolism require more sophisticated assays for screening. Although the molecular diagnosis of infertility would be difficult with the current available technologies, we suggest that deletions and/or mutations in SPATA16 , 36, 37 PICK1 , 38 DPY19L2 , 39 ZPBP1 , 40 DNAH1 , 41 CatSper1 / 2 , 143, 144, 145 GALNTL5 158 and others 7 need to be checked for infertility diagnosis of globozoospermia. Whole genome-based techniques will hopefully help to identify more infertility-related mutations and risk factors in future.…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

“…Among them, deletions and/or mutations in SPATA16 , 36, 37 PICK1 , 38 DPY19L2 , 39 ZPBP1 40 and DNAH1 41 have been identified in globozoospermia patients. The involvement of the human orthologues of the other above-mentioned mouse genes in human globozoospermia requires further investigation.…”

Section: Globozoospermia-related Proteins: Roles In Acrosomementioning

confidence: 99%

The control of male fertility by spermatid-specific factors: searching for contraceptive targets from spermatozoon’s head to tail

et al. 2016

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Male infertility due to abnormal spermatozoa has been reported in both animals and humans, but its pathogenic causes, including genetic abnormalities, remain largely unknown. On the other hand, contraceptive options for men are limited, and a specific, reversible and safe method of male contraception has been a long-standing quest in medicine. Some progress has recently been made in exploring the effects of spermatid-specifical genetic factors in controlling male fertility. A comprehensive search of PubMed for articles and reviews published in English before July 2016 was carried out using the search terms ‘spermiogenesis failure', ‘globozoospermia', ‘spermatid-specific', ‘acrosome', ‘infertile', ‘manchette', ‘sperm connecting piece', ‘sperm annulus', ‘sperm ADAMs', ‘flagellar abnormalities', ‘sperm motility loss', ‘sperm ion exchanger' and ‘contraceptive targets'. Importantly, we have opted to focus on articles regarding spermatid-specific factors. Genetic studies to define the structure and physiology of sperm have shown that spermatozoa appear to be one of the most promising contraceptive targets. Here we summarize how these spermatid-specific factors regulate spermiogenesis and categorize them according to their localization and function from spermatid head to tail (e.g., acrosome, manchette, head-tail conjunction, annulus, principal piece of tail). In addition, we emphatically introduce small-molecule contraceptives, such as BRDT and PPP3CC/PPP3R2, which are currently being developed to target spermatogenic-specific proteins. We suggest that blocking the differentiation of haploid germ cells, which rarely affects early spermatogenic cell types and the testicular microenvironment, is a better choice than spermatogenic-specific proteins. The studies described here provide valuable information regarding the genetic and molecular defects causing male mouse infertility to improve our understanding of the importance of spermatid-specific factors in controlling fertility. Although a male contraceptive ‘pill' is still many years away, research into the production of new small-molecule contraceptives targeting spermatid-specific proteins is the right avenue.

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Review on Sperm Sorting Technologies and Sperm Properties toward New Separation Methods via the Interface of Biochemistry and Material Science

et al. 2019

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Successful fertilization in mammals requires spermatozoa to efficiently traverse the female reproductive tract to meet the egg. This process naturally selects high quality sperm cells for fertilization, but when artificial reproductive technologies are used such as in vitro fertilization, intracytoplasmic sperm injection, or intrauterine insemination, other methods of sperm selection are required. Currently, technology enables sperm sorting based on motility, maturity as defined by zeta potential or hyaluronic acid binding site expression, absence of apoptotic factors, appropriate morphology, and even sex. This review summarizes current knowledge on all known methods of sperm cell sorting, compares their efficiency, and discusses the advantages and limitations of each technique. Scope for further refinement and improvement of current methods are discussed as is the potential to utilize a variety of materials to innovate new methods of sperm separation.

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A new mutation identified in SPATA16 in two globozoospermic patients

Cited by 42 publications

References 14 publications

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

The control of male fertility by spermatid-specific factors: searching for contraceptive targets from spermatozoon’s head to tail

Review on Sperm Sorting Technologies and Sperm Properties toward New Separation Methods via the Interface of Biochemistry and Material Science

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