Lack of a maternal contribution to the genome at the imprinted domain on proximal chromosome 15 causes Angelman syndrome (AS) associated with neurobehavioral anomalies that include severe mental retardation, ataxia and epilepsy1,2. Although AS patients have infrequent mutations in the gene encoding an E6-AP ubiquitin ligase required for long-term synaptic potentiation (LTP), most cases are attributed to de novo maternal deletions of 15q11–q13 (ref. 3). We report here that a novel maternally expressed gene, ATP10C, maps within the most common interval of deletion and that ATP10C expression is virtually absent from AS patients with imprinting mutations, as well as from patients with maternal deletions of 15q11–q13.
Subscribe to Journal
Get full journal access for 1 year
only $17.42 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
Nicholls, R.D., Saitoh, S. & Horsthemke, B. Trends Genet. 14, 194–200 (1998).
Jiang, Y., Tsai, T.-F., Bressler, J. & Beaudet, A.L. Curr. Opin. Genet. Dev. 8, 334–342 (1998).
Jiang, Y., Lev-Lehman, E., Bressler, J., Tsai, T.-F. & Beaudet, A.L. Am. J. Hum. Genet. 65, 1–6 (1999).
Mutirangura, A. et al. Genomics 18, 546–5527 (1993).
Albrecht, U. et al. Nature Genet. 17, 75–78 (1997).
Mann, M.R.W. & Bartolomei, M.S. Hum. Mol. Genet. 8, 1867–1873 (1999).
Moncla, A. Eur. J. Hum. Genet. 7, 131–139 (1999).
Dittrich, B. et al. Nature Genet. 14, 163–170 (1996).
Bielinska, B. et al. Nature Genet. 25, 74–78 (2000).
Dhar, M. et al. Physiol. Genomics 4, 93–100 (2000).
Cattanach, B.M. et al. Mamm. Genome 8, 472–478 (1997).
Gillessen-Kaesbach, G. et al. Eur. J. Hum. Genet. 7, 638–644 (1999).
Halleck, M.S. et al. Physiol. Genomics 1, 139–150 (1999).
Verdaguer, N. et al. EMBO J. 18, 6329–6338 (1999).
Saitoh, S. et al. Clin. Genet. 55, 277–278 (1999).
We thank the patients and their family members for cooperation; K. Nakamura and M. Yoshida for normal Japanese samples; K. Axelsen for the P-type ATPase web page; and R. Nishigaki for technical assistance. K.M. is a postdoctoral fellow of the Japan Society for the Promotion of Science for Research Abroad. This work was supported by CREST of Japan Science and Technology Corporation, and grants from the Ministry of Education, Science, Sports and Culture of Japan and the Human Frontier Science Program Organization.
About this article
Cite this article
Meguro, M., Kashiwagi, A., Mitsuya, K. et al. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat Genet 28, 19–20 (2001). https://doi.org/10.1038/ng0501-19
Frontiers in Molecular Neuroscience (2018)
PLOS ONE (2016)
A pathway from chromosome transfer to engineering resulting in human and mouse artificial chromosomes for a variety of applications to bio-medical challenges
Chromosome Research (2015)
Immunity, Inflammation and Disease (2015)
Clinica Chimica Acta (2015)