International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Wood A J
Division of Medical Genetics, GKT School of Medicine, 8th Floor Guy's Tower, London, SE1 9RT, UK.

Co-Authors: 2) Underkoffler L A, 2) Collins J N, 1) Choi J D, 3) Beechey C V, 1) Oakey R J
Institutions: 1) Division of Medical Genetics, GKT School of Medicine, 8th Floor Guy's Tower, London, SE1 9RT, UK. 2) Division of Human Genetics, The Children's Hospital of Philadelphia, USA. 3) Mammalian Genetics Unit, Harwell, Didcot, Oxon OX11 ORD, UK

Imprinted genes are differentially expressed from the maternally and paternally inherited alleles. Accordingly, uniparental inheritance of an imprinted chromosome or region leads to the mis-expression of imprinted genes. DNA microarrays have identified a novel imprinted gene from a uniparentally duplicated region of mouse chromosome 7 expressed mainly in brain, referred to hereafter as “575”. Inter-subspecies allele specific assays demonstrate that 575 is imprinted in brain and biallelically expressed in non-brain tissues. The imprinted transcript size is approximately ~3.7kb and the non-imprinted version is ~ 4.0kb. Northern blot analysis confirmed the presence of both transcripts in the brain, but the 3.7kb species was not detected in any of the other tissues tested.

In situ hybridization demonstrated expression of 575 at E9 in the spinal cord. Sagital sections at E12 revealed strong expression throughout the hindbrain and spinal cord, possibly including the anterior diencephalon and ganglionic eminence. At E16 expression was seen in the cerebral cortex, the olfactory bulb, the ganglionic eminence, thalamus and hypocampus. We present bisulphite mutagenesis data around two characterized CpG islands close to the transcript and discuss other sequence-based features classically associated with imprinting.

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