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Cited by 16Sperm and Testicular FunctionReproductive Biology and FertilityReproductive biology and impacts on aquatic species

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men

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Faja, Fabiana, Pallotti, Francesco, Cargnelutti, Francesco, Senofonte, Giulia, Carlini, Tania, Lenzi, Andrea, Lombardo, Francesco, Paoli, Donatella·2021·Life
DOI 10.3390/life11070641PMC PMC8307282
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Abstract

This study aims to evaluate genetic contribution and sperm DNA fragmentation (SDF) in a cohort of 18 unrelated globozoospermic Italian men (Group G). Semen samples were assessed according to the WHO 2010 Laboratory Manual and compared with 31 fertile controls. We focused our genetic analysis on the exons of the main globozoospermia-associated genes, performing qualitative PCR to assess deletion of DPY19L2 and sequencing to detect mutations of SPATA16 and PICK1. SDF was evaluated using the TUNEL assay. In Group G, 10 patients had a complete form of globozoospermia, whereas 8 patients had a partial form. Molecular analysis revealed deletion of DPY19L2 in six of the patients, all of them with complete globozoospermia, while no mutations were found in the examined exons of PICK1 and SPATA16. TUNEL analysis showed a higher SDF% in Group G. Our findings confirm DPY19L2 defects as the most frequent genetic alteration in Italian patients contributing to globozoospermic phenotypes. Furthermore, spermatozoa with acrosomal defects could also display high levels of SDF as a possible consequence of abnormally remodeled chromatin. The possible effect on offspring of chromatin structure abnormalities and altered DNA integrity should be carefully evaluated by clinicians, especially regarding the feasibility and safety of artificial reproductive techniques, which represent the only treatment that allows these patients to conceive.

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  • A cohort study in Italy of 18 unrelated men found several genes responsible for globozoospermia, including mutations or deletions of DPY19L2, PICK1, and SPATA16.

    “A cohort study in Italy of 18 unrelated men found several genes to be responsible for globozoospermia including mutations or deletions of DPY19L2, PICK1, and SPATA16 (46).”

    From Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review (2024) · cites this paper as [46]

    The Introduction and Genetic Analysis describe a cohort of 18 unrelated Italian men. The Results (section 3.2) report DPY19L2 deletions in six men, but no mutations in the examined exons of PICK1 or SPATA16. The study therefore does not support the claim that this cohort found mutations or deletions in all three genes. (LLM, conf=0.94)

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Cited by

Sorted by citations

Authors
Faja, F., Pallotti, F., Cargnelutti, F., Senofonte, G., Carlini, T., Lenzi, A., Lombardo, F., & Paoli, D.
Affiliations
Sapienza University of Rome (IT)
Corresponding author
Paoli, Donatella
ORCID
Venue
Life
Publisher
MDPI AG
Published
2021-06-30
Volume
11
Issue
7
Pages
641
ISSN
2075-1729 (ISSN-L)
DOI
10.3390/life11070641
PMC
PMC8307282
OpenAlex
W3174879077
Cited by
16
References
2
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2.59
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journal article
Language
en
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  • Life (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
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  • IRIS Research product catalog (Sapienza University of Rome) (submittedVersion, cc-by)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
MIUR-PRIN (2017S9KTNE_003)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Reproductive biology and impacts on aquatic species
Keywords
globozoospermia, PICK1, sperm DNA fragmentation, acrosome defects, male infertility, chromatin remodeling, TUNEL, Italian men

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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