Molecular Biology Reports

, Volume 32, Issue 2, pp 127–131

Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS

  • Xin Li
  • Chaoneng Ji
  • Jiefeng Gu
  • Jian Xu
  • Zhe Jin
  • Liyun Sun
  • Xianqiong Zou
  • Yun Lin
  • Ruping Sun
  • Peng Wang
  • Shaohua Gu
  • Yumin Mao
Short communication

Abstract

Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. Much initial molecular analysis supported that Triple-A syndrome was caused by mutations in AAAS, a WD-repeat protein gene. Here we report cloning and characterization of a novel splice variant of human AAAS, which we named AAAS-v2, which is located on the human chromosome 12p13. The cDNA is 1703 bp, encoding a 513-amino acid polypeptide, which contains three WD40 domains, one less than the original which we called AAAS-v1 (Gen Bank: NM_015665.3). RT-PCR analysis in our work revealed that AAAS-v2 and AAAS-v1 were ubiquitously detected in human multiple tissue cDNA (MTC) panels (CLONTECH).

Keywords

AAAS-V2 RT-PCR WD40 repeat 

Abbreviations

AAAS

Triple-A syndrome

ALADIN

protein product of AAAS

NPC

nuclear pore complexes

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Allgrove, J, Clayden, GS, Grant, DB, Macaulay, JC 1978Lancet112841286PubMedGoogle Scholar
  2. 2.
    Grant, DB, Barnes, ND, Dumic, M, Ginaslska-Malinowska, M, Milla, PJ, Petrykowski, W, Rowlatt, RJ, Steendijk, R, Wales, JH, Werder, E 1993Arch. Dis. Child68779782PubMedGoogle Scholar
  3. 3.
    Clark, A J L, Weber, A 1998Endocr. Rev19828843PubMedGoogle Scholar
  4. 4.
    Roubergue, A, Apartis, E, Vidailhet, M, Mignot, C, Tullio-Pelet, A, Lyonnet, S, Villemeur, TB 2004Mov. Disord19344346PubMedGoogle Scholar
  5. 5.
    Schmittmann-Ohters, K, Huebner, A, Richter-Unruh, A, Hauffa, BP 2001Horm. Res566772Google Scholar
  6. 6.
    Tullio-Pelet, A, Salomon, R, Hadj-Rabia, S, Mugnier, C, Laet, MH, Chaouachi, B, Bakiri, F, Brottier, P, Cattolico, L, Penet, C, Begeot, M, Naville, D, Nicolino, M, Chaussain, JL, Weissenbach, J, Munnich, A, Lyonnet, S. 2000Nat. Genet26332335PubMedGoogle Scholar
  7. 7.
    Handschug, K, Sperling, S, Yoon, SJ, Hennig, S, Clark, AJ, Huebner, A 2001Hum. Mol. Genet10283290PubMedGoogle Scholar
  8. 8.
    Katsumata, N, Hirose, H, Kagami, M, Tanaka, T 2001Hum. Mol. Genet10283290PubMedGoogle Scholar
  9. 9.
    Yuksel, B, Braun, R, Topaloglu, AK, Mungan, NO, Ozer, G, Huebner, A 2004Horm. Res6136PubMedGoogle Scholar
  10. 10.
    Cronshaw, JM, Matunis, MJ 2003Proc. Natl. Acad. Sci. USA10058235827PubMedGoogle Scholar

Copyright information

© Springer 2005

Authors and Affiliations

  • Xin Li
    • 1
  • Chaoneng Ji
    • 1
  • Jiefeng Gu
    • 1
  • Jian Xu
    • 1
  • Zhe Jin
    • 1
  • Liyun Sun
    • 1
  • Xianqiong Zou
    • 1
  • Yun Lin
    • 1
  • Ruping Sun
    • 1
  • Peng Wang
    • 1
  • Shaohua Gu
    • 1
  • Yumin Mao
    • 1
  1. 1.State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life SciencesFudan UniversityShanghaiPeople’s Republic of China

Personalised recommendations