학술논문
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
Document Type
Report
Author
Pippucci, Tommaso; Noris, Patrizia; De Rocco, Daniela; Punzo, Francesc; Bozzi, Valeria; Perini, Giovanni; Savoia, Anna; Castegnaro, Giovanni; Scianguetta, Saverio; Marconi, Caterina; Dezzani, Luc; Seri, Marco; Perrotta, Silverio; Pecci, Alessandro; Barozzi, Serena; Gherardi, Samuele; Di Stazio, Mariateresa; Balduini, Carlo L.; Pujol-Moix, Nuria; Gnan, Chiara; Magini, Pamela; Loffredo, Giuseppe; Ferraro, Marcella
Source
American Journal of Human Genetics. Jan 7, 2011, Vol. 88 Issue 1, p115, 6 p.
Subject
Language
English
ISSN
0002-9297
Abstract
Six different ANKRD26 mutations clustered in a highly conserved 19 bp sequence located in the 5' untranslated region were identified to demonstrate that ANKRD26 is another gene within the THC2 (an autosomal-dominant thrombocytopenia)locus, and neither MASTL nor ACBD5 is mutated in eight unrelated families. ANKRD26, identified as the ancestor of a family of primate-specific genes termed POTE, a family of proapoptotic proteins demonstrated that dysregulation of apoptosis might be the pathogenetic mechanism as revealed for another thrombocytopenia, THC4, hence further study is required to support evidence for proposed hypothesis.