A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

Abstract

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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Figure 1: Identification of a novel member of the type IV subfamily of P-type ATPases.
Figure 2: mRNA expression analysis of ATP10C.

References

  1. 1

    Nicholls, R.D., Saitoh, S. & Horsthemke, B. Trends Genet. 14, 194–200 (1998).

    CAS  Article  Google Scholar 

  2. 2

    Jiang, Y., Tsai, T.-F., Bressler, J. & Beaudet, A.L. Curr. Opin. Genet. Dev. 8, 334–342 (1998).

    CAS  Article  Google Scholar 

  3. 3

    Jiang, Y., Lev-Lehman, E., Bressler, J., Tsai, T.-F. & Beaudet, A.L. Am. J. Hum. Genet. 65, 1–6 (1999).

    CAS  Article  Google Scholar 

  4. 4

    Mutirangura, A. et al. Genomics 18, 546–5527 (1993).

    CAS  Article  Google Scholar 

  5. 5

    Albrecht, U. et al. Nature Genet. 17, 75–78 (1997).

    CAS  Article  Google Scholar 

  6. 6

    Mann, M.R.W. & Bartolomei, M.S. Hum. Mol. Genet. 8, 1867–1873 (1999).

    CAS  Article  Google Scholar 

  7. 7

    Moncla, A. Eur. J. Hum. Genet. 7, 131–139 (1999).

    CAS  Article  Google Scholar 

  8. 8

    Dittrich, B. et al. Nature Genet. 14, 163–170 (1996).

    CAS  Article  Google Scholar 

  9. 9

    Bielinska, B. et al. Nature Genet. 25, 74–78 (2000).

    CAS  Article  Google Scholar 

  10. 10

    Dhar, M. et al. Physiol. Genomics 4, 93–100 (2000).

    CAS  Article  Google Scholar 

  11. 11

    Cattanach, B.M. et al. Mamm. Genome 8, 472–478 (1997).

    CAS  Article  Google Scholar 

  12. 12

    Gillessen-Kaesbach, G. et al. Eur. J. Hum. Genet. 7, 638–644 (1999).

    CAS  Article  Google Scholar 

  13. 13

    Halleck, M.S. et al. Physiol. Genomics 1, 139–150 (1999).

    CAS  Article  Google Scholar 

  14. 14

    Verdaguer, N. et al. EMBO J. 18, 6329–6338 (1999).

    CAS  Article  Google Scholar 

  15. 15

    Saitoh, S. et al. Clin. Genet. 55, 277–278 (1999).

    CAS  Article  Google Scholar 

Download references

Acknowledgements

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.

Author information

Affiliations

Authors

Corresponding author

Correspondence to Mitsuo Oshimura.

Rights and permissions

Reprints and Permissions

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

Download citation

Further reading

Search

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing