title: A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues.
abstract: Three genes on 11p15.5 are known to undergo genomic imprinting. The gene for insulin-like growth factor II (IGF2) is normally expressed from the paternal allele, while H19 and p57KIP2, a cyclin-dependent kinase inhibitor, are expressed from the maternal allele. Five germline balanced chromosomal rearrangement breakpoints from patients with Beckwith-Wiedemann syndrome (BWS) have been mapped to 11p15.5 between p57KIP2 and IGF2, and all are derived from the maternal chromosome. By positional cloning from BWS breakpoints, we have isolated a gene 100 kb and 65 kb centromeric to the proximal end of this BWS breakpoint cluster and p57KIP2, respectively. This gene is homologous to yeast nucleosome assembly protein (NAP1) and to a human homologue of NAP1, and we designate it hNAP2 (human nucleosome assembly protein 2). hNAP2 diverges in its expression pattern from IGF2, H19, and p57KIP2, and it shows biallelic expression in all tissues tested. Thus, hNAP2 is functionally insulated from the imprinting domain of 11p15.
authors.affiliation: Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Hu
authors.forename: M P
authors.initials: MP
authors.lastname: Lee
authors.forename: L A
authors.initials: LA
authors.lastname: Johnson
authors.forename: A P
authors.initials: AP
authors.lastname: Feinberg
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D018797:Cell Cycle Proteins; D002478:Cells, Cultured; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003001:Cloning, Molecular; D050761:Cyclin-Dependent Kinase Inhibitor p57; D005333:Fetus; D005347:Fibroblasts; D018507:Gene Expression Regulation, Developmental; D015321:Gene Rearrangement / Q000235:genetics; D005796:Genes; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D007668:Kidney; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D056490:Nucleosome Assembly Protein 1; D011506:Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D012333:RNA, Messenger / Q000235:genetics; D022661:RNA, Untranslated; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D009396:Wilms Tumor / Q000235:genetics
chemical_list: C493964:CDKN1C protein, human; D018797:Cell Cycle Proteins; D050761:Cyclin-Dependent Kinase Inhibitor p57; C094335:H19 long non-coding RNA; D009124:Muscle Proteins; C533557:NAP1L1 protein, human; C104356:NAP1L4 protein, human; D009687:Nuclear Proteins; D056490:Nucleosome Assembly Protein 1; D011506:Proteins; D062085:RNA, Long Noncoding; D012333:RNA, Messenger; D022661:RNA, Untranslated; D007335:Insulin-Like Growth Factor II