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Published on: June 23, 2023
Genomic imprinting in disruptive spermatogenesis.
Cristina Joana Marques1, Filipa Carvalho, Mário Sousa
1Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Lancet (London, England)
|May 26, 2004
Summary
Assisted reproductive technologies may transmit imprinting diseases. Spermatozoa from men with low sperm counts show abnormal genomic imprinting, increasing the risk of transmitting these errors.
Area of Science:
- Genetics
- Reproductive Biology
- Developmental Biology
Background:
- Assisted reproductive technologies (ART) raise concerns about imprinting disease transmission.
- Angelman's and Beckwith-Wiedemann's syndromes are linked to imprinting errors.
Purpose of the Study:
- To investigate the association between imprinting defects and disturbed spermatogenesis.
- To analyze genomic imprinting in spermatozoa from men with normal and low sperm counts.
Main Methods:
- Studied two oppositely imprinted genes (MEST and H19) in spermatozoan DNA.
- Utilized bisulphite genomic sequencing to assess DNA methylation patterns.
- Compared imprinting status in normozoospermic and oligozoospermic patient groups.
Main Results:
- Maternal imprinting of the MEST gene was correctly erased in all patients.
- Abnormal H19 gene methylation changes were observed in moderate (17%) and severe (30%) oligozoospermic patients.
- No H19 methylation changes were found in normozoospermic individuals.
Conclusions:
- Suggests an association between abnormal genomic imprinting and hypospermatogenesis.
- Spermatozoa from oligozoospermic men carry an increased risk of transmitting imprinting errors.
- Highlights potential risks associated with ART and male infertility.
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