ABCMdb

PMID: 17191107

Gambardella S, Biancolella M, D'Apice MR, Amati F, Sangiuolo F, Farcomeni A, Chillemi G, Bueno S, Desideri A, Novelli G
Gene expression profile study in CFTR mutated bronchial cell lines.
Clin Exp Med. 2006 Dec;6(4):157-65., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg553* In order to identify CF modifier genes, we built a low-density home-made oligoarray containing 144 genes selected according to biochemical criteria and evaluated their expression in two CF bronchial epithelial cell lines (CuFi1 F508del/F508del; CuFi3 F508del/R553X). Login to comment 9 ABCC7 p.Arg553* These data could suggest that the presence of a class I allele (R553X) determines a more profound alteration of gene expression pattern than the presence of a class II allele (F508del). Login to comment 24 ABCC7 p.Arg553* In certain cases (R553X), the mutated mRNA is unstable and does not produce the protein, causing loss of CFTR chloride channel activity in the affected epithelia [13-15]. Login to comment 39 ABCC7 p.Arg553* To this aim, we analysed two CF bronchial epithelial cell lines deriving from two patients with a different CFTR genotype: CuFi1 (F508del/F508del) homozygous for two class II mutations, and CuFi3 (F508del/R553X), a heterozygous compound with one class I allele and one class II allele. Login to comment 80 ABCC7 p.Arg553* Results To identify genomic response to different CFTR mutations, total RNA was isolated from two different human epithelial bronchial-derived cell lines, CuFi1 (F508del/ F508del) and CuFi3 (F508del/R553X), and from a healthy subject, NuLi1 at the same passage (P15). Login to comment 104 ABCC7 p.Arg553* For each gene the values of QRT-PCR (log2RT) and of cDNA microarray (log2microarray) are shown in the two cell lines Gene name CuFi1 CuFi1 CuFi3 CuFi3 log2RT log2microarray log2RT log2microarray ENaC 1.60 1.00 2.00 1.38 SMAD3 -1.00 -1.80 1.00 1.00 GRM8 -1.00 -0.98 2.00 1.00 NHERF2 -0.15 0.00 -0.60 -0.25 Calreticulin 2.00 0.60 -1.00 -0.12 Discussion We performed a low-density microarray analysis on two bronchial epithelial cell lines, CuFi1 (F508del/F508del) and CuFi3 (F508del/R553X), compared with a cell line from a healthy subject (NuLi1). Login to comment 160 ABCC7 p.Arg553* In this case, the presence of allele R553X in CuFi3 induces a generally more profound alteration of gene expression pattern, because the cell tries to produce CFTR from an RNA that does not produce the protein. Login to comment