A candidate model for angelman syndrome in the mouse |
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| Authors: | Bruce M Cattanach J A Barr C V Beechey J Martin J Noebels J Jones |
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| Institution: | (1) Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 ORD, UK, GB;(2) The London Hospital Medical College, Department of Morbid Anatomy, The Royal London Hospital, London E1 1BB, UK, GB;(3) Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA, US |
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| Abstract: | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are well-recognized examples of imprinting in humans. They occur most
commonly with paternal and maternal 15q11-13 deletions, but also with maternal and paternal disomy. Both syndromes have also
occurred more rarely in association with smaller deletions seemingly causing abnormal imprinting. A putative mouse model of
PWS, occurring with maternal duplication (partial maternal disomy) for the homologous region, has been described in a previous
paper but, although a second imprinting effect that could have provided a mouse model of AS was found, it appeared to be associated
with a slightly different region of the chromosome. Here, we provide evidence that the same region is in fact involved and
further demonstrate that animals with paternal duplication for the region exhibit characteristics of AS patients. A mouse
model of AS is, therefore, strongly indicated.
Received: 15 December 1996 / Accepted: 31 January 1997 |
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