“Whoa! It's like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Get 2 Weeks Free

Atp10a , a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC



Mutations affecting a cluster of coordinately regulated imprinted genes located at 15q11-q13 underlie both Prader–Willi syndrome (PWS) and Angelman syndrome (AS). Disruption of the predominately maternally expressed UBE3A locus is sufficient to meet diagnostic criteria for AS. However, AS patients with a deletion of the entire PWS/AS locus often have more severe traits than patients with point mutations in UBE3A suggesting that other genes contribute to the syndrome. ATP10A resides 200 kb telomeric to UBE3A and is of uncertain imprinted status. An initial report indicated bialleleic expression of the murine Atp10a in all tissues, but a subsequent report suggests that Atp10a is predominantly maternally expressed in the hippocampus and olfactory bulb. To resolve this discrepancy, we investigated Atp10a allelic expression in the brain, DNA methylation status, and sensitivity to mutations of the PWS imprinting center, an element required for imprinted gene expression in the region. We report that Atp10a is biallelically expressed in both the newborn and adult brain, and Atp10a allelic expression is insensitive to deletion or mutation of the PWS imprinting center. The CpG island associated with Atp10a is hypomethylated, a result consistent with the notion that Atp10a is not an imprinted gene.



NeurogeneticsSpringer Journals

Published: May 1, 2010

DOI: 10.1007/s10048-009-0226-9

Free Preview of First Page

Loading next page...

You're reading a free preview. Subscribe to read the entire article.

And millions more from thousands of peer-reviewed journals, for just $40/month

Get 2 Weeks Free

To be the best researcher, you need access to the best research

  • With DeepDyve, you can stop worrying about how much articles cost, or if it's too much hassle to order — it's all at your fingertips. Your research is important and deserves the top content.
  • Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.
  • All the latest content is available, no embargo periods.

Stop missing out on the latest updates in your field

  • We’ll send you automatic email updates on the keywords and journals you tell us are most important to you.
  • There is a lot of content out there, so we help you sift through it and stay organized.