TY - JOUR
T1 - Expression analysis of the human adducin gene family and evidence of ADD2 β 4 multiple splicing variants
AU - Citterio, Lorena
AU - Tizzoni, Laura
AU - Catalano, Marco
AU - Zerbini, Gianpaolo
AU - Bianchi, Giuseppe
AU - Barlassina, Cristina
PY - 2003/9/19
Y1 - 2003/9/19
N2 - Adducin is a cytoskeleton heterodimeric protein. Its subunits are encoded by three related genes (ADD1, ADD2, and ADD3) which show alternative spliced variants. Adducin polymorphisms are involved in blood pressure regulation in humans and rats. We have analyzed mRNA distribution of ADD gene family in human tissues and cells with Real-Time TaqMan RT-PCR. Whereas ADD1 is ubiquitously distributed, ADD3 is more expressed in kidney medulla and cortex than in fetal kidney, while in adult liver it is less abundant than in fetal liver. ADD2 β1 and β4 variants show the same pattern of distribution with the highest expression in brain, fetal liver, and kidney. Conventional RT-PCR identified new β4 variants. β4a is characterized by an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region. It is coexpressed with β1 and β4 in several tissues. Fetal kidney shows further β4b, β4c and β4d variants containing internal exon deletions that enormously modify the predicted NH2 and central regions. Our findings could help one to understand the functional role of adducin variants in specific tissues and cells.
AB - Adducin is a cytoskeleton heterodimeric protein. Its subunits are encoded by three related genes (ADD1, ADD2, and ADD3) which show alternative spliced variants. Adducin polymorphisms are involved in blood pressure regulation in humans and rats. We have analyzed mRNA distribution of ADD gene family in human tissues and cells with Real-Time TaqMan RT-PCR. Whereas ADD1 is ubiquitously distributed, ADD3 is more expressed in kidney medulla and cortex than in fetal kidney, while in adult liver it is less abundant than in fetal liver. ADD2 β1 and β4 variants show the same pattern of distribution with the highest expression in brain, fetal liver, and kidney. Conventional RT-PCR identified new β4 variants. β4a is characterized by an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region. It is coexpressed with β1 and β4 in several tissues. Fetal kidney shows further β4b, β4c and β4d variants containing internal exon deletions that enormously modify the predicted NH2 and central regions. Our findings could help one to understand the functional role of adducin variants in specific tissues and cells.
KW - Adducin
KW - Alternative splicing variants
KW - Genetics
KW - Hypertension
KW - Real-time quantitative RT-PCR
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U2 - 10.1016/j.bbrc.2003.08.011
DO - 10.1016/j.bbrc.2003.08.011
M3 - Article
C2 - 12951058
AN - SCOPUS:0041923839
VL - 309
SP - 359
EP - 367
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -