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).
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