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Maternal methylation imprints on human chromosome 15 are established during or after fertilization
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Maternal methylation imprints on human chromosome 15 are established during or after fertilization
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Journal Article
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
2001
Overview
Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from the lack of transcripts expressed from the paternal copy of the imprinted chromosomal region 15q11–q13 (refs.
1
,
2
). In some patients, this is associated with a deletion of the
SNURF-SNRPN
exon 1 region inherited from the paternal grandmother and the presence of a maternal imprint on the paternal chromosome. Assuming that imprints are reset in the germ line, we and others have suggested that this region constitutes part of the 15q imprinting center (IC) and is important for the maternal to paternal imprint switch in the male germ line
3
,
4
. Here we report that sperm DNA from two males with an IC deletion had a normal paternal methylation pattern along 15q11–q13. Similar findings were made in a mouse model. Our results indicate that the incorrect maternal methylation imprint in IC deletion patients is established
de novo
after fertilization. Moreover, we found that CpG-rich regions in
SNURF-SNRPN
and
NDN
, which in somatic tissues are methylated on the maternal allele, are hypomethylated in unfertilized human oocytes. Our results indicate that the normal maternal methylation imprints in 15q11–q13 also are established during or after fertilization.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Chromosomes, Human, Pair 15 - genetics
/ Complications and side effects
/ DNA
/ Female
/ Humans
/ Identification and classification
/ letter
/ Male
/ Males
/ Mice
/ Pedigree
/ Prader-Willi Syndrome - genetics
/ Sperm
