Human Molecular Genetics, Vol 5, 1743-1748, Copyright © 1996 by Oxford University Press
RJ Hu, MP Lee, LA Johnson and AP 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.
ARTICLES
A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
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