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

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

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).

Original languageEnglish (US)
Pages (from-to)127-131
Number of pages5
JournalMolecular Biology Reports
Volume32
Issue number2
DOIs
StatePublished - Jun 2005
Externally publishedYes

Bibliographical note

Funding Information:
This work is part of project 30170315 supported by the National Nature Science Foundation of China.

Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.

Keywords

  • AAAS-V2
  • RT-PCR
  • WD40 repeat

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