Genomic imprinting in disruptive spermatogenesis

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Marques, CJ (Author) Other; carvalho, f (Author) FMUP; sousa, m (Author) ICBAS; barros, a (Author) FMUP

Journal

Title: The Lancet

Vol. 363

Pages: 1700-1702

ISSN: 0140-6736

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 256 Citations

Scopus - 294 Citations

Other information

Authenticus ID: P-000-ABR

DOI: 10.1016/s0140-6736(04)16256-9

Abstract (EN): The possibility of imprinting disease transmission by assisted reproductive technologies has been raised after births of children with Angelman's and Beckwith-Wiedemann's syndromes. To investigate whether imprinting defects were associated with disturbed spermatogenesis, we studied two oppositely imprinted genes in spermatozoan DNA from normozoospermic and oligozoospermic patients. In the mesodermal specific transcript gene (MEST), bisulphite genomic sequencing showed that maternal imprinting was correctly erased in all 123 patients. However, methylation of the H19 gene did not change in any of 27 normozoospermic individuals (0%, 95% CI 0-13%), compared with methylation changes in eight moderate (17%, 8-31%, p=0.026) and 15 severe (30%, 18-45%, p=0.002) oligozoospermic patients. Our data suggest an association between abnormal genomic imprinting and hypospermatogenesis, and that spermatozoa from oligozoospermic patients carry a raised risk of transmitting imprinting errors.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3