Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 12, Pages 1582-1591Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.68
Keywords
genomic imprinting; assisted reproductive technologies; DNA methylation; oligospermic patients; DNA methyltransferase 3-like protein
Funding
- Ministry of Health and Welfare of Japan [19390423, 20017003]
- Japan Science and Technology Agency (JST)
- Avon Support Foundation
- Suzuken Memorial Foundation
- Takeda Science Foundation
- Children's Cancer Association of Japan
- Uehara Memorial Foundation
- Kampo Medical Foundation
- Osteoporosis Foundation
- Hiromi Foundation
- Daiwa Foundation
- NIG Cooperative Research Program [2008-B]
- Smoking Research Foundation
- Nakatomi Foundation
- The Salt Science Research Foundation [0829]
- Nestle Nutrition Council Japan
- Kobayashi Institute for Innovative Cancer Chemotherapy
- Yamada Bee Farm Grant for Honeybee Research
- Sagawa Cancer Foundation
- Grants-in-Aid for Scientific Research [20017003, 19390423] Funding Source: KAKEN
Ask authors/readers for more resources
There is an increased prevalence of imprinting disorders, such as Beckwith-Wiedemann syndrome, associated with human assisted reproductive technologies (ART). Work on animal models suggests that in vitro culture may be the source of these imprinting errors. However, in this study we report that, in some cases, the errors are inherited from the father. We analyzed DNA methylation at seven autosomal imprinted loci and the XIST locus in 78 paired DNA samples. In seven out of seventeen cases where there was abnormal DNA methylation in the ART sample (41%), the identical alterations were present in the parental sperm. Furthermore, we also identified DNA sequence variations in the gene encoding DNMT3L, which were associated with the abnormal paternal DNA methylation. Both the imprinting errors and the DNA sequence variants were more prevalent in patients with oligospermia. Our data suggest that the increase in the incidence of imprinting disorders in individuals born by ART may be due, in some cases, to the use of sperm with intrinsic imprinting mutations. European Journal of Human Genetics (2009) 17, 1582-1591; doi:10.1038/ejhg.2009.68; published online 27 May 2009
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available