title: Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus.
abstract: We have identified a region with characteristics of a paternal-specific methylation imprint at the human H19 locus. This region, extending from -2.0 kb upstream to the start of transcription, is heavily methylated in sperm and on the paternal allele in somatic cells. This methylation was preserved during pre-implantation. Structural analysis revealed the presence of CpG islands and a large direct repeat with a 400 bp sequence reiterated several times, but no significant sequence homology to the corresponding region of the mouse H19 gene. These findings could suggest a role for secondary DNA structure in genomic imprinting across the species, and they also present a puzzling aspect of the evolution of the H19 regulatory region in human and mouse.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Jinno
authors.forename: K
authors.initials: K
authors.lastname: Sengoku
authors.forename: M
authors.initials: M
authors.lastname: Nakao
authors.forename: K
authors.initials: K
authors.lastname: Tamate
authors.forename: T
authors.initials: T
authors.lastname: Miyamoto
authors.forename: T
authors.initials: T
authors.lastname: Matsuzaka
authors.forename: J S
authors.initials: JS
authors.lastname: Sutcliffe
authors.forename: T
authors.initials: T
authors.lastname: Anan
authors.forename: N
authors.initials: N
authors.lastname: Takuma
authors.forename: K
authors.initials: K
authors.lastname: Nishiwaki
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
authors.forename: T
authors.initials: T
authors.lastname: Ishimaru
authors.forename: M
authors.initials: M
authors.lastname: Ishikawa
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D018899:CpG Islands; D004247:DNA / Q000235:genetics; D019175:DNA Methylation; D017931:DNA Primers / Q000235:genetics; D047108:Embryonic Development / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D016147:Genes, Tumor Suppressor; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000378:metabolism*; D010920:Placenta / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D013045:Species Specificity
chemical_list: D017931:DNA Primers; C094335:H19 long non-coding RNA; D009124:Muscle Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D004247:DNA