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FB2026_01
,
released March 12, 2026
Cystic fibrosis (CF) is a multisystemic disease affecting epithelia and epithelial secretions of many different organs; CF exhibits autosomal recessive inheritance. Cystic fibrosis is caused by mutation in the CFTR gene, which encodes a chloride ion channel expressed in the apical membranes of various epithelia.
CFTR is a member of the ATP binding cassette subfamily C (ABCC); this gene family has a complex phylogenetic history, with multiple independent expansions. There are at least 13 members in human and 14 in Drosophila (see FBgg0000548). Based on analysis of homology within CFTR-specific domains and comparison of predicted 3-D structures, it has been postulated that the fly gene Cftr is functionally homologous to human CFTR.
RNAi-mediated knockdown of Cftr in the fly adult intestine results in gastrointestinal phenotypes comparable to those observed in cystic fibrosis, including disruption of osmotic homeostasis, swelling of epithelial cells, and greater susceptibility to bacterial infection. Cl(-) efflux across the intestinal epithelium is reduced and increased Na(+) influx is observed. Transcriptomic analysis of Cftr RNAi animals led to identification of an up-regulated mucin, Muc68D, with a role in intestinal barrier protection; increased levels of specific mucins have also been observed in cystic fibrosis.
UAS constructs of the human Hsap\CFTR gene have been introduced into flies, including wild-type and variants implicated in cystic fibrosis; see the table of disease-implicated variants below. Heterologous rescue (functional complementation) is observed for loss-of-function CF-related phenotypes of Cftr : co-expression of the wild-type human gene rescues the Cftr phenotypes; co-expression of any of the human gene constructs carrying a pathological variant does not result in rescue.
[updated Sep. 2020 by FlyBase; FBrf0222196]
[CYSTIC FIBROSIS; CF](https://omim.org/entry/219700)
[Fc GAMMA RECEPTOR IIa; FCGR2A](https://omim.org/entry/146790)
[CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR](https://omim.org/entry/602421)
[TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1](https://omim.org/entry/190180)
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. [Gene Reviews, Cystic Fibrosis and Congenital Absence of the Vas Deferens; 2020.09.06]
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. [Genetics Home Reference, Cystic Fibrosis; 2020.09.06]
Cystic fibrosis is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance regulator gene (CFTR). [from MIM:219700; 2020.09.06]
CFTR (CF transmembrane conductance regulator) encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The CFTR protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. [Gene Cards, CFTR; 2020.09.06]
Multiple related genes in both species.
Multiple related genes in both species. Cftr is postulated to be functionally homologous to human CFTR (FBrf0245682).