The objective of this review was to examine the role of the various spermatozoal components suspected of actively participating in early human development. The contributions of the fertilizing spermatozoon to the oocyte include, as a minimum, the delivery of the DNA/chromatin, a putative oocyte-activating factor (OAF), and a centriole. Recent data indicate that spermatozoa may also provide the zygote with a unique suite of paternal mRNAs; some transcripts might be crucial for early and late embryonic development and deficient delivery, or aberrant transcription might contribute to abnormal development and arrest. Clinical evidence from assisted reproduction suggests that failure to complete the fertilization process, syngamy, or early cleavage might be the result of an early paternal effect. It is speculated that an abnormal release of a putative OAF and/or dysfunctions of the centrosome and cytoskeletal apparatus may mediate these effects. On the other hand, a later paternal effect resulting in embryonic failure to achieve implantation, pregnancy loss, and/or developmental abnormalities resulting from "carried over" sublethal effects may be associated with sperm nuclear/chromatin defects, including the presence of aneuploidy, genetic anomalies, DNA damage, and possibly other causes. These findings highlight the need for continuous monitoring of clinical results.
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http://dx.doi.org/10.1016/j.fertnstert.2009.06.030 | DOI Listing |
BMC Genomics
January 2025
MOE Key Laboratory of Marine Genetics and Breeding, Laboratory for Marine Biology and Biotechnology (Qingdao Marine Science and Technology Center), Ocean University of China, Qingdao, China.
Background: Spermatogenesis is a complex process of cellular differentiation that commences with the division of spermatogonia stem cells, ultimately resulting in the production of functional spermatozoa. However, a substantial gap remains in our understanding of the molecular mechanisms and key driver genes that underpin this process, particularly in invertebrates. The dwarf surfclam (Mulinia lateralis) is considered an optimal bivalve model due to its relatively short generation time and ease of breeding in laboratory settings.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Reproductive Genetics, the First Affiliated Hospital of Kunming Medical University, No. 295, Xichang Road, Wuhua District, Kunming, China.
Purpose: This study aimed to monitor the expression of B-cell translocation gene 2 (BTG2) in granulosa cells of patients undergoing IVF/ICSI with respect blastocyst quality outcomes.
Methods: We recruited 181 women undergoing IVF/ICSI cycles for infertility. Granulosa cells were extracted from follicular fluid.
Front Cell Dev Biol
January 2025
Developmental Epigenetics Laboratory, Department of Animal Science, Reproductive and Developmental Sciences Program, Michigan State University, East Lansing, MI, United States.
Science
January 2025
Sex Chromosome Biology Laboratory, The Francis Crick Institute, London, UK.
The mammalian Y chromosome is essential for male fertility, but which Y genes regulate spermatogenesis is unresolved. We addressed this by generating 13 Y-deletant mouse models. In , , and deletants, spermatogenesis was impaired.
View Article and Find Full Text PDFGenet Mol Biol
January 2025
King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), College of Medicine, Riyadh, Saudi Arabia.
Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.
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