caa a22 4500 397573995 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199611 xx s 000 0 eng 10.1093/hmg/5.11.1743 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.11.1743 A Novel Human Homologue of Yeast Nucleosome Assembly Protein, 65 kb Centromeric to the p57KIP2 Gene, is Biallelically Expressed in Fetal and Adult Tissues [Elektronische Daten] [Ren-Ju Hu, Maxwell P. Lee, Laura A. Johnson, Andrew P. Feinberg] 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. © 1996 Oxford University Press Hu Ren-Ju Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut Lee Maxwell P. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut Johnson Laura A. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut Feinberg Andrew P. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut Human Molecular Genetics Oxford University Press 5/11(1996-11), 1743-1748 0964-6906 5:11<1743 1996 5 hmg https://doi.org/10.1093/hmg/5.11.1743 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.11.1743 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hu Ren-Ju Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut NATIONALLICENCE 700 1- Lee Maxwell P. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut NATIONALLICENCE 700 1- Johnson Laura A. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut NATIONALLICENCE 700 1- Feinberg Andrew P. Department of Medicine, and Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/11(1996-11), 1743-1748 0964-6906 5:11<1743 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford