TY - JOUR
T1 - Genomic organization of the human γ adducin gene
AU - Citterio, Lorena
AU - Azzani, Tiziana
AU - Duga, Stefano
AU - Bianchi, Giuseppe
PY - 1999/12/9
Y1 - 1999/12/9
N2 - We report the genomic structure of the human γ adducin gene (ADD3). Adducin is a protein involved in cytoskeletal assembly and composed of α-β or α-γ subunits which share a high degree of homology between human and rat. Mutations in α subunit have been shown associated to both human and rat hypertension. The human ADD3 gene spans over 20 kb and is composed of at least 13 introns and 14 exons covering the entire coding region. The exon size ranges from 81 bp to greater than 293 bp and the intron size from 111 bp to longer than 3.2 kb. We also demonstrate the presence of an alternative splicing event around exon 13, whose sequence, position, and expression is analogous in rat Add3 gene. Moreover, human ADD3 amino acid sequence presents 91.9% of identity compared to rat sequence. Characterization of human ADD3 gene provides an important tool for mutation analysis.
AB - We report the genomic structure of the human γ adducin gene (ADD3). Adducin is a protein involved in cytoskeletal assembly and composed of α-β or α-γ subunits which share a high degree of homology between human and rat. Mutations in α subunit have been shown associated to both human and rat hypertension. The human ADD3 gene spans over 20 kb and is composed of at least 13 introns and 14 exons covering the entire coding region. The exon size ranges from 81 bp to greater than 293 bp and the intron size from 111 bp to longer than 3.2 kb. We also demonstrate the presence of an alternative splicing event around exon 13, whose sequence, position, and expression is analogous in rat Add3 gene. Moreover, human ADD3 amino acid sequence presents 91.9% of identity compared to rat sequence. Characterization of human ADD3 gene provides an important tool for mutation analysis.
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U2 - 10.1006/bbrc.1999.1769
DO - 10.1006/bbrc.1999.1769
M3 - Article
C2 - 10581174
AN - SCOPUS:0033539949
VL - 266
SP - 110
EP - 114
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 1
ER -