title: Genomic imprinting in disruptive spermatogenesis.
abstract: 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.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Cristina Joana
authors.initials: CJ
authors.lastname: Marques
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
mesh_terms: D000483:Alleles; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics; D013076:Sperm Count; D013094:Spermatozoa / Q000378:metabolism
chemical_list: C094335:H19 long non-coding RNA; D011506:Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; C103637:mesoderm specific transcript protein