A novel p27 gene mutation in a case of unclassified myeloproliferative disorder.
P27 encodes a member of Cip/Kip family of cyclin dependent kinase inhibitors, the inactivation of which has been implicated in the pathogenesis of various hematological neoplasias. We report on a novel point mutation of this gene identified in a case of unclassified myeloproliferative syndrome consisting of a T --> C transversion at 821bp of p27 exon 1, resulting in a Ile --> Thr substitution at codon 119. The analysis of larger number of cases as well as the effect of this mutation on protein's function will help to clarify its significance in the pathogenesis of myeloproliferative syndromes.
Pappa
V
V
Second Department of Internal Medicine Propaedeutic, Attikon University General Hospital, Rimini 1, Chaidari, Athens, Greece. vas_pappa@hotmail.com
Papageorgiou
S
S
Papageorgiou
E
E
Panani
A
A
Boutou
E
E
Tsirigotis
P
P
Dervenoulas
J
J
Economopoulos
T
T
Raptis
S
S
D018797:Cell Cycle Proteins / Q000235:genetics*; D050760:Cyclin-Dependent Kinase Inhibitor p27; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D006801:Humans; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; D025521:Tumor Suppressor Proteins; D050760:Cyclin-Dependent Kinase Inhibitor p27