Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization

Marchiani, Sara; Muratori, Monica; Baldi, Elisabetta

doi:10.1007/978-3-030-37972-8_3

Cited by 6 publications

(3 citation statements)

References 90 publications

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“…This is facilitated by the endogenous nuclease topoisomerase II, creating DNA breaks to reduce torsional stress for histone disassembly and chromatin packaging [19][20][21]. If these breaks are not repaired, impairment of chromatin packaging may result in defective maturation and the appearance of sperm with increased SDF in the ejaculate [22][23][24][25][26][27]. SDF can also be induced by abortive apoptosis during spermatogenesis.…”

Section: Origin Of Sperm Dna Fragmentation 1 Primary Mechanisms Undementioning

confidence: 99%

Sperm DNA Fragmentation: A New Guideline for Clinicians

Agarwal

Majzoub

Baskaran

et al. 2020

World J Mens Health

173

144

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Sperm DNA integrity is crucial for fertilization and development of healthy offspring. The spermatozoon undergoes extensive molecular remodeling of its nucleus during later phases of spermatogenesis, which imparts compaction and protects the genetic content. Testicular (defective maturation and abortive apoptosis) and post-testicular (oxidative stress) mechanisms are implicated in the etiology of sperm DNA fragmentation (SDF), which affects both natural and assisted reproduction. Several clinical and environmental factors are known to negatively impact sperm DNA integrity. An increasing number of reports emphasizes the direct relationship between sperm DNA damage and male infertility. Currently, several assays are available to assess sperm DNA damage, however, routine assessment of SDF in clinical practice is not recommended by professional organizations. This article provides an overview of SDF types, origin and comparative analysis of various SDF assays while primarily focusing on the clinical indications of SDF testing. Importantly, we report four clinical cases where SDF testing had played a significant role in improving fertility outcome. In light of these clinical case reports and recent scientific evidence, this review provides expert recommendations on SDF testing and examines the advantages and drawbacks of the clinical utility of SDF testing using Strength-Weaknesses-Opportunities-Threats (SWOT) analysis.

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Section: Origin Of Sperm Dna Fragmentation 1 Primary Mechanisms Undementioning

confidence: 99%

Sperm DNA Fragmentation: A New Guideline for Clinicians

Agarwal

Majzoub

Baskaran

et al. 2020

World J Mens Health

173

144

View full text Add to dashboard Cite

show abstract

“…For normal embryonic development, a complete and an intact genetic material is required. During spermatogenesis, the formation of spermatozoa leads to a sperm DNA nuclei that is extremely compact compared to somatic cell nuclei [61].…”

Section: Discussionmentioning

confidence: 99%

H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy

Amor,

Juhasz-Böss,

Bibi

et al. 2024

Preprint

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Abnormalities in sperm nuclei and chromatin can interfere with normal fertilization, embryonic development, implantation, and pregnancy. We aimed in this study to determine the impact of H2BFWT gene variants in sperm DNA on ICSI outcomes in couples undergoing ART treatment. One hundred and nineteen partners were divided into pregnant (G1) and non-pregnant (G2) groups. After semen analysis, complete DNA was extracted from purified sperm samples. The sequence of the H2BFWT gene was amplified by PCR and then subjected to Sanger sequencing. The results showed that there are three mutations in this gene: rs7885967, rs553509 and rs578953. rs553509 and rs578953 showed significant differences in the distribution of alternative and reference alleles between G1 and G2 (P = 0.0004 and P = 0.0020, respectively). However, there was no association between these SNPs and the studied parameters. This study is the first to shed light on the connection between H2BFWT gene variants in sperm DNA and pregnancy after ICSI therapy. This is a pilot study, so further investigations about these gene variants at the transcriptional and translational levels, in a larger cohort of patients, are needed to determine its functional consequences and to understand the mechanism of how the pregnancy is affected by sperm DNA.

show abstract

“…For normal embryonic development, complete and intact genetic material is required. During spermatogenesis, the formation of spermatozoa leads to a sperm DNA nuclei that is extremely compact compared to somatic cell nuclei [ 59 ].…”

Section: Discussionmentioning

confidence: 99%

H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy

Amor,

Juhasz-Böss,

Bibi

et al. 2024

IJMS

View full text Add to dashboard Cite

Abnormalities in sperm nuclei and chromatin can interfere with normal fertilization, embryonic development, implantation, and pregnancy. We aimed to study the impact of H2BFWT gene variants in sperm DNA on ICSI outcomes in couples undergoing ART treatment. One hundred and nineteen partners were divided into pregnant (G1) and non-pregnant (G2) groups. After semen analysis, complete DNA was extracted from purified sperm samples. The sequence of the H2BFWT gene was amplified by PCR and then subjected to Sanger sequencing. The results showed that there are three mutations in this gene: rs7885967, rs553509, and rs578953. Significant differences were shown in the distribution of alternative and reference alleles between G1 and G2 (p = 0.0004 and p = 0.0020, respectively) for rs553509 and rs578953. However, there was no association between these SNPs and the studied parameters. This study is the first to shed light on the connection between H2BFWT gene variants in sperm DNA and pregnancy after ICSI therapy. This is a pilot study, so further investigations about these gene variants at the transcriptional and translational levels will help to determine its functional consequences and to clarify the mechanism of how pregnancy can be affected by sperm DNA.

show abstract

Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization

Cited by 6 publications

References 90 publications

Sperm DNA Fragmentation: A New Guideline for Clinicians

Sperm DNA Fragmentation: A New Guideline for Clinicians

H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy

H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy

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