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Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.
Andrologia. 2019 Jul; 51(6):e13277.A

Abstract

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.

Authors+Show Affiliations

Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaine, CHU Farhat Hached, Sousse, Tunisie.Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaine, CHU Farhat Hached, Sousse, Tunisie.Laboratoire de Diagnostic Génétique, UF3472-génétique de l'infertilité, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaine, CHU Farhat Hached, Sousse, Tunisie. Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisie.Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaine, CHU Farhat Hached, Sousse, Tunisie. Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisie.

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

30912172

Citation

Ghédir, Houda, et al. "Comparison of Sperm Morphology and Nuclear Sperm Quality in SPATA16- and DPY19L2-mutated Globozoospermic Patients." Andrologia, vol. 51, no. 6, 2019, pp. e13277.
Ghédir H, Braham A, Viville S, et al. Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. Andrologia. 2019;51(6):e13277.
Ghédir, H., Braham, A., Viville, S., Saad, A., & Ibala-Romdhane, S. (2019). Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. Andrologia, 51(6), e13277. https://doi.org/10.1111/and.13277
Ghédir H, et al. Comparison of Sperm Morphology and Nuclear Sperm Quality in SPATA16- and DPY19L2-mutated Globozoospermic Patients. Andrologia. 2019;51(6):e13277. PubMed PMID: 30912172.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. AU - Ghédir,Houda, AU - Braham,Asma, AU - Viville,Stéphane, AU - Saad,Ali, AU - Ibala-Romdhane,Samira, Y1 - 2019/03/26/ PY - 2018/12/29/received PY - 2019/02/08/revised PY - 2019/02/26/accepted PY - 2019/3/27/pubmed PY - 2020/1/7/medline PY - 2019/3/27/entrez KW - DPY19L2 KW - SPATA16 KW - DNA fragmentation KW - globozoospermia KW - sperm aneuploidy SP - e13277 EP - e13277 JF - Andrologia JO - Andrologia VL - 51 IS - 6 N2 - 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. SN - 1439-0272 UR - https://www.unboundmedicine.com/medline/citation/30912172/Comparison_of_sperm_morphology_and_nuclear_sperm_quality_in_SPATA16__and_DPY19L2_mutated_globozoospermic_patients_ L2 - https://doi.org/10.1111/and.13277 DB - PRIME DP - Unbound Medicine ER -