Human Molecular Genetics, Vol 6, 2127-2133, Copyright © 1997 by Oxford University Press
M Meguro, K Mitsuya, H Sui, K Shigenami, H Kugoh, M Nakao and M Oshimura
We have constructed mouse A9 hybrids containing a single normal human
chromosome 15, via microcell-mediated chromosome transfer. Cytogenetic and
DNA-polymorphic analyses identified mouse A9 hybrids that contained either
a paternal or maternal human chromosome 15. Paternal specific expression of
the known imprinted genes SNRPN (small nuclear ribonucleoprotein-associated
polypeptide N gene) and IPW (imprinted gene in the Prader-Willi syndrome
region) was maintained in the A9 hybrids. Using this system, we first
demonstrated that human GABAAreceptor subunit genes, GABRB3 , GABRA5 and
GABRG3 , were expressed exclusively from the paternal allele and that E6-AP
(E6- associated protein or UBE3A ) was biallelically expressed. Moreover,
the 5' portion of the GABRB3 gene was found to be hypermethylated on the
paternal allele. Our data imply that GABAAreceptor subunit genes are
imprinted and are possible candidates for Prader-Willi syndrome, and that
this human monochromosomal hybrid system enables the efficient analysis of
imprinted loci.
ARTICLES
Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer
Department of Molecular and Cell Genetics, School of Life Sciences, Faculty of Medicine, Tottori University, Nishimachi 86, Yonago, Tottori 683, Japan.
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